ClinVar Miner

List of variants in gene PIGN reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.2284-1G>C rs760977825 0.00006
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_176787.5(PIGN):c.1252-2A>G rs1360977917 0.00001
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.1505A>G (p.Gln502Arg) rs748821498 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg) rs1251827296 0.00001
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg) rs771266203 0.00001
NM_176787.5(PIGN):c.2600T>C (p.Ile867Thr) rs745844688 0.00001
NM_176787.5(PIGN):c.344-1G>T rs776568529 0.00001
NM_176787.5(PIGN):c.490G>A (p.Glu164Lys) rs775172938 0.00001
NM_176787.5(PIGN):c.562C>T (p.His188Tyr) rs773629540 0.00001
NM_176787.5(PIGN):c.805+2T>C rs2036353930 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NC_000018.9:g.(?_59819870)_(59824935_?)del
NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)
NM_176787.5(PIGN):c.1172+5G>C rs1057518061
NM_176787.5(PIGN):c.1205_1207delinsAG (p.Leu402_Arg403delinsTer) rs1064793808
NM_176787.5(PIGN):c.1245_1250delinsC (p.Glu416fs) rs1599554145
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.1434_1434+1delinsAA rs886041514
NM_176787.5(PIGN):c.1494dup (p.Leu499fs) rs750418747
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter) rs560010455
NM_176787.5(PIGN):c.1574+1G>A
NM_176787.5(PIGN):c.1574+1G>C rs371315187
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316
NM_176787.5(PIGN):c.1674+1G>A rs376355678
NM_176787.5(PIGN):c.1675-1G>T rs772411133
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.1767G>A (p.Lys589=) rs2034656569
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1860-1G>A rs1599525360
NM_176787.5(PIGN):c.2077+2T>A rs1599520660
NM_176787.5(PIGN):c.2181-2A>G rs1453224514
NM_176787.5(PIGN):c.222-1G>A
NM_176787.5(PIGN):c.2271_2283+1del rs2033903740
NM_176787.5(PIGN):c.2371-1G>T rs778689280
NM_176787.5(PIGN):c.2371-2A>G
NM_176787.5(PIGN):c.2426+1G>T rs1458045074
NM_176787.5(PIGN):c.2426+2T>G
NM_176787.5(PIGN):c.2427-1G>A
NM_176787.5(PIGN):c.2427-1G>T
NM_176787.5(PIGN):c.2502+1G>A
NM_176787.5(PIGN):c.2502+1G>T
NM_176787.5(PIGN):c.2503-2A>G
NM_176787.5(PIGN):c.2577-1G>A rs2033087760
NM_176787.5(PIGN):c.2620-1G>A rs759453664
NM_176787.5(PIGN):c.2620-2A>G rs1568143319
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.328_549+1908del
NM_176787.5(PIGN):c.343+1G>A
NM_176787.5(PIGN):c.343+2T>C
NM_176787.5(PIGN):c.344-1G>A rs776568529
NM_176787.5(PIGN):c.344-2A>C rs2147517939
NM_176787.5(PIGN):c.407G>A (p.Trp136Ter) rs1215392490
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_176787.5(PIGN):c.674+1G>A rs1555694770
NM_176787.5(PIGN):c.674+2T>A
NM_176787.5(PIGN):c.675-1G>C
NM_176787.5(PIGN):c.755A>G (p.Asp252Gly) rs886039216
NM_176787.5(PIGN):c.806-4_808del
NM_176787.5(PIGN):c.922+2T>C
NM_176787.5(PIGN):c.923-1G>A rs1000602230
NM_176787.5(PIGN):c.923-1G>T
NM_176787.5(PIGN):c.923-6T>G rs2147221657
NM_176787.5(PIGN):c.963+1G>T rs1568224018

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.