ClinVar Miner

List of variants studied for Focal dermal hypoplasia

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Total variants: 13
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NM_203475.3(PORCN):c.1023+2T>A rs1556975151
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) rs587776737
NM_203475.3(PORCN):c.1109G>A (p.Arg370Gln) rs387906723
NM_203475.3(PORCN):c.1356del (p.Cys453fs) rs1602085557
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) rs1602070472
NM_203475.3(PORCN):c.329+1G>A rs1602070594
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) rs1057519006
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)
NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs) rs1556974808

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