ClinVar Miner

List of variants in gene PORCN studied for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) rs2061711638
NM_203475.3(PORCN):c.1012G>T (p.Ala338Ser)
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.1077_1078insAAC (p.Tyr359_Val360insAsn)
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) rs2061714949
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter) rs2147139830
NM_203475.3(PORCN):c.1225C>T (p.His409Tyr)
NM_203475.3(PORCN):c.1284+1G>A
NM_203475.3(PORCN):c.1356del (p.Cys453fs) rs1602085557
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.329+1G>A rs1602070594
NM_203475.3(PORCN):c.329+1G>C
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
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.565T>C (p.Trp189Arg) rs1057519006
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) rs2147130188
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter) rs2061661896
NM_203475.3(PORCN):c.846-2A>G
NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs) rs1556974808
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575
NM_203475.3(PORCN):c.946+2_946+3del rs2147131642
NM_203475.3(PORCN):c.964C>G (p.Leu322Val) rs782200118

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