List of variants in gene PORCN reported as uncertain significance by Ambry Genetics

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_203475.3(PORCN):c.896T>C (p.Val299Ala)	rs1158822302	0.00003
NM_203475.3(PORCN):c.872A>C (p.Asn291Thr)	rs372673870	0.00002
NM_203475.3(PORCN):c.1261G>A (p.Val421Met)	rs984923291	0.00001
NM_203475.3(PORCN):c.1004C>T (p.Ala335Val)	rs200613551
NM_203475.3(PORCN):c.1168C>T (p.Arg390Cys)	rs2519483800
NM_203475.3(PORCN):c.1175G>A (p.Gly392Asp)
NM_203475.3(PORCN):c.122T>A (p.Leu41His)
NM_203475.3(PORCN):c.1284G>C (p.Gln428His)	rs2519491975
NM_203475.3(PORCN):c.336G>A (p.Met112Ile)
NM_203475.3(PORCN):c.433G>A (p.Glu145Lys)
NM_203475.3(PORCN):c.49T>C (p.Cys17Arg)	rs1556973506
NM_203475.3(PORCN):c.695G>A (p.Arg232His)
NM_203475.3(PORCN):c.713T>C (p.Met238Thr)	rs1569478241
NM_203475.3(PORCN):c.736G>C (p.Glu246Gln)

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