ClinVar Miner

List of variants in gene SRCAP reported as pathogenic by OMIM

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.1143_1153delinsTGT (p.Pro382fs) rs2151287951
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs) rs1567248015
NM_006662.3(SRCAP):c.5977_5980del (p.Cys1993fs) rs2151296560
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter) rs587777656
NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs) rs2151300039
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs) rs199469466
NM_006662.3(SRCAP):c.7863dup (p.Gln2622fs) rs587776938
NM_006662.3(SRCAP):c.9344del (p.Pro3115fs) rs2151301366

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