ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as likely benign by Ambry Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487 0.00011
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000202.8(IDS):c.999G>A (p.Ser333=) rs1483244890 0.00002
NM_000202.8(IDS):c.642G>A (p.Thr214=) rs1738744298

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