ClinVar Miner

List of variants in gene DSPP reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014208.3(DSPP):c.708T>C (p.Asp236=) rs61731010 0.04620
NM_014208.3(DSPP):c.727G>A (p.Asp243Asn) rs3750025 0.04053
NM_014208.3(DSPP):c.392T>C (p.Ile131Thr) rs61731009 0.02525
NM_014208.3(DSPP):c.1259T>C (p.Val420Ala) rs191967636 0.00555
NM_014208.3(DSPP):c.1060C>T (p.Arg354Cys) rs61731011 0.00345
NM_014208.3(DSPP):c.180G>T (p.Leu60=) rs200927888 0.00070
NM_014208.3(DSPP):c.2504GCA[1] (p.Ser836del) rs143008261
NM_014208.3(DSPP):c.2730CAGCAGTGA[1] (p.913DSS[1]) rs111456637
NM_014208.3(DSPP):c.3492_3500del (p.1152_1154DSS[8]) rs537399785
NM_014208.3(DSPP):c.3624_3641del (p.1181SDS[15]) rs879255400
NM_014208.3(DSPP):c.3724_3741dup (p.1236DSS[6]) rs780050498

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