ClinVar Miner

List of variants in gene PORCN reported as likely pathogenic for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) rs2061711638
NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter) rs2147139830
NM_203475.3(PORCN):c.1284+1G>A
NM_203475.3(PORCN):c.1356del (p.Cys453fs) rs1602085557
NM_203475.3(PORCN):c.329+1G>A rs1602070594
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg) rs1057519006
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro) rs2147130188
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu) rs2061701575

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