C4479526[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687570	NM_000188.3(HK1):c.1298G>A (p.Arg433His)	HK1 (R401H +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 421007	NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	HK1 (S433L +6 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1333598	NM_000188.3(HK1):c.1525G>A (p.Val509Ile)	HK1 (V477I +6 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 79	GUncertain significance

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