List of variants reported as uncertain significance for neurodevelopmental disorder with visual defects and brain anomalies

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000188.3(HK1):c.1274G>A (p.Arg425Gln)	rs779828856	0.00004
NM_000188.3(HK1):c.2381G>A (p.Arg794Gln)	rs780518562	0.00003
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)	rs202028638	0.00002
NM_000188.3(HK1):c.1720-3C>T	rs1256697528	0.00001
NM_000188.3(HK1):c.1119C>A (p.His373Gln)	rs538951044
NM_000188.3(HK1):c.227-5115A>T	rs2132733382
NM_000188.3(HK1):c.2401C>T (p.Arg801Trp)
NM_000188.3(HK1):c.2692G>A (p.Gly898Ser)	rs1840365658
NM_000188.3(HK1):c.761G>A (p.Arg254Lys)
NM_000188.3(HK1):c.991C>T (p.Arg331Ter)

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