List of variants in gene PIGV reported as uncertain significance by GeneDx

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: 34

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)	rs142192097	0.00097
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)	rs143676075	0.00068
NM_017837.4(PIGV):c.872A>G (p.Asn291Ser)	rs147396061	0.00051
NM_017837.4(PIGV):c.94A>G (p.Ile32Val)	rs147565152	0.00026
NM_017837.4(PIGV):c.134G>A (p.Arg45His)	rs148135928	0.00011
NM_017837.4(PIGV):c.786A>T (p.Gln262His)	rs769687257	0.00011
NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu)	rs146467198	0.00009
NM_017837.4(PIGV):c.133C>T (p.Arg45Cys)	rs752514953	0.00006
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys)	rs374158705	0.00006
NM_017837.4(PIGV):c.980A>G (p.Asn327Ser)	rs142884955	0.00006
NM_017837.4(PIGV):c.1089C>A (p.Asn363Lys)	rs904668661	0.00004
NM_017837.4(PIGV):c.1067T>G (p.Leu356Arg)	rs988022455	0.00003
NM_017837.4(PIGV):c.638T>C (p.Leu213Pro)	rs146852030	0.00003
NM_017837.4(PIGV):c.986T>A (p.Leu329Gln)	rs997028891	0.00003
NM_017837.4(PIGV):c.1147G>A (p.Val383Met)	rs765449173	0.00002
NM_017837.4(PIGV):c.1414C>G (p.Leu472Val)	rs771177205	0.00002
NM_017837.4(PIGV):c.184G>A (p.Gly62Ser)	rs777251503	0.00002
NM_017837.4(PIGV):c.5G>C (p.Trp2Ser)	rs768302053	0.00002
NM_017837.4(PIGV):c.680T>G (p.Met227Arg)	rs781524183	0.00002
NM_017837.4(PIGV):c.1220G>C (p.Gly407Ala)	rs1330977790	0.00001
NM_017837.4(PIGV):c.1313C>T (p.Pro438Leu)	rs766533625	0.00001
NM_017837.4(PIGV):c.1317T>C (p.Leu439=)	rs959088580	0.00001
NM_017837.4(PIGV):c.1364T>C (p.Met455Thr)	rs749892627	0.00001
NM_017837.4(PIGV):c.22C>T (p.Arg8Trp)	rs769363441	0.00001
NM_017837.4(PIGV):c.455C>A (p.Ala152Asp)	rs773349099	0.00001
NM_017837.4(PIGV):c.563G>A (p.Arg188Gln)	rs368069947	0.00001
NM_017837.4(PIGV):c.-57-7G>A
NM_017837.4(PIGV):c.-8G>T	rs757511396
NM_017837.4(PIGV):c.1155C>A (p.His385Gln)	rs200817594
NM_017837.4(PIGV):c.1318G>A (p.Ala440Thr)
NM_017837.4(PIGV):c.1445G>C (p.Gly482Ala)	rs1204745319
NM_017837.4(PIGV):c.368A>G (p.Asn123Ser)	rs1267164610
NM_017837.4(PIGV):c.452C>G (p.Ala151Gly)	rs1057524351
NM_017837.4(PIGV):c.891C>A (p.Phe297Leu)	rs1057518270

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.