List of variants in gene PORCN reported as likely pathogenic for syndromic intellectual disability

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_203475.3(PORCN):c.-6_24delinsCCACC (p.Met1fs)
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
NM_203475.3(PORCN):c.887G>C (p.Arg296Pro)

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