List of variants in gene HK1 reported as likely pathogenic for neurodevelopmental disorder with visual defects and brain anomalies

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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.1393G>A (p.Glu465Lys)	rs780576140	0.00001
NM_000188.3(HK1):c.796G>A (p.Asp266Asn)	rs1322472709	0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)	rs779250530	0.00001
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	rs1564557037
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)	rs1064794848
NM_000188.3(HK1):c.1370C>A (p.Thr457Lys)

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