ClinVar Miner

List of variants in gene NSDHL reported by GeneReviews

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp) rs2521798824
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833

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