List of variants in gene HK1 reported as likely pathogenic for retinal disorder

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000188.3(HK1):c.1240G>A (p.Gly414Arg)	rs2132871580
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	rs1064794848
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	rs1057517928
NM_000188.3(HK1):c.409T>A (p.Phe137Ile)
NM_000188.3(HK1):c.613del (p.Ala205fs)

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