ClinVar Miner

List of variants in gene PIGN reported as likely pathogenic for disorder of GPI anchor biosynthesis

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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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.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.1434+5G>A rs369486176 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.344-1G>T rs776568529 0.00001
NM_176787.5(PIGN):c.805+2T>C rs2036353930 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NC_000018.9:g.(?_59755969)_(59763203_?)dup
NC_000018.9:g.(?_59772865)_(59775077_?)del
NC_000018.9:g.(?_59819870)_(59824935_?)del
NM_176787.5(PIGN):c.1109A>C (p.Gln370Pro)
NM_176787.5(PIGN):c.1116+1G>A
NM_176787.5(PIGN):c.1247_1251del (p.Glu416fs) rs1444518753
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del) rs1568244811
NM_176787.5(PIGN):c.1434_1434+1delinsAA rs886041514
NM_176787.5(PIGN):c.1519_1523delinsTTTG (p.Thr507fs)
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.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.1860-1G>A rs1599525360
NM_176787.5(PIGN):c.2077+2T>A rs1599520660
NM_176787.5(PIGN):c.2125C>T (p.Arg709Ter)
NM_176787.5(PIGN):c.2180+1G>C rs1568169374
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.2370+1G>A
NM_176787.5(PIGN):c.2371-1G>C
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.465T>A (p.Tyr155Ter)
NM_176787.5(PIGN):c.601_602insT (p.Glu201fs)
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.675-2A>T
NM_176787.5(PIGN):c.806-1G>C
NM_176787.5(PIGN):c.806-2A>T
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
NM_176787.5(PIGN):c.963+2T>C
NM_176787.5(PIGN):c.981G>A (p.Leu327=)

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