List of variants reported as pathogenic for Focal dermal hypoplasia

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_203475.3(PORCN):c.1023+2T>A	rs1556975151
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs)	rs587776737
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)	rs2061714949
NM_203475.3(PORCN):c.137-1G>C
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.370C>T (p.Arg124Ter)	rs137852218
NM_203475.3(PORCN):c.374-2A>G	rs2147123496
NM_203475.3(PORCN):c.49_80del (p.Cys17fs)	rs2061661681
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
NM_203475.3(PORCN):c.532C>T (p.Gln178Ter)
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)	rs2061661896
NM_203475.3(PORCN):c.846-2A>G
NM_203475.3(PORCN):c.946+2_946+3del	rs2147131642

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