ClinVar Miner

List of variants in gene PIGA reported as likely benign for syndromic dyslipidemia

Included ClinVar conditions (70):
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_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_002641.4(PIGA):c.456G>A (p.Thr152=) rs776453997 0.00004
NM_002641.4(PIGA):c.1381C>T (p.Arg461Trp) rs752798208 0.00003
NM_002641.4(PIGA):c.1422G>A (p.Gly474=) rs1381482858 0.00003
NM_002641.4(PIGA):c.924C>T (p.Thr308=) rs144162396 0.00003
NM_002641.4(PIGA):c.438G>C (p.Gly146=) rs143565005 0.00002
NM_002641.4(PIGA):c.616A>G (p.Ile206Val) rs201119959 0.00002
NM_002641.4(PIGA):c.657A>G (p.Pro219=) rs1217291446 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_002641.4(PIGA):c.1308C>T (p.Phe436=) rs778444082 0.00001
NM_002641.4(PIGA):c.1338T>A (p.Thr446=) rs1437471008 0.00001
NM_002641.4(PIGA):c.1368T>C (p.Asp456=) rs761116405 0.00001
NM_002641.4(PIGA):c.1419A>G (p.Arg473=) rs776651457 0.00001
NM_002641.4(PIGA):c.232A>G (p.Lys78Glu) rs776182358 0.00001
NM_002641.4(PIGA):c.35G>A (p.Arg12His) rs1380833875 0.00001
NM_002641.4(PIGA):c.459C>T (p.Asp153=) rs1922153058 0.00001
NM_002641.4(PIGA):c.48A>G (p.Thr16=) rs772936689 0.00001
NM_002641.4(PIGA):c.848+17T>C rs758986672 0.00001
NM_002641.4(PIGA):c.849-10A>G rs1413431429 0.00001
NM_002641.4(PIGA):c.873A>G (p.Glu291=) rs757121631 0.00001
NM_002641.4(PIGA):c.981+9C>T rs377014685 0.00001
NM_002641.4(PIGA):c.1095A>G (p.Gln365=) rs1555944375
NM_002641.4(PIGA):c.1143A>G (p.Val381=)
NM_002641.4(PIGA):c.1149T>C (p.Thr383=)
NM_002641.4(PIGA):c.1185A>G (p.Glu395=) rs1234870253
NM_002641.4(PIGA):c.1188+14T>A
NM_002641.4(PIGA):c.1188+20A>G
NM_002641.4(PIGA):c.1189-17G>T
NM_002641.4(PIGA):c.1200G>A (p.Arg400=)
NM_002641.4(PIGA):c.1219T>C (p.Leu407=)
NM_002641.4(PIGA):c.1293G>A (p.Leu431=)
NM_002641.4(PIGA):c.1311C>T (p.Leu437=) rs2147714758
NM_002641.4(PIGA):c.132A>G (p.Pro44=)
NM_002641.4(PIGA):c.1350C>T (p.Ile450=)
NM_002641.4(PIGA):c.1386T>C (p.Gly462=)
NM_002641.4(PIGA):c.144C>T (p.Gly48=) rs1922168318
NM_002641.4(PIGA):c.216T>C (p.His72=)
NM_002641.4(PIGA):c.252C>T (p.Thr84=)
NM_002641.4(PIGA):c.291G>T (p.Met97Ile)
NM_002641.4(PIGA):c.300G>A (p.Gln100=) rs757482806
NM_002641.4(PIGA):c.339C>G (p.Leu113=)
NM_002641.4(PIGA):c.387T>C (p.Ser129=) rs2147723733
NM_002641.4(PIGA):c.390T>C (p.Ser130=) rs2147723729
NM_002641.4(PIGA):c.399T>C (p.Ala133=) rs2147723722
NM_002641.4(PIGA):c.417C>T (p.Leu139=) rs2147723711
NM_002641.4(PIGA):c.420C>T (p.Phe140=) rs760682734
NM_002641.4(PIGA):c.423C>T (p.His141=)
NM_002641.4(PIGA):c.441T>C (p.Leu147=) rs2147723672
NM_002641.4(PIGA):c.447A>G (p.Thr149=)
NM_002641.4(PIGA):c.591A>G (p.Ala197=)
NM_002641.4(PIGA):c.651A>G (p.Pro217=)
NM_002641.4(PIGA):c.715+18A>G
NM_002641.4(PIGA):c.715+7A>C rs1233865208
NM_002641.4(PIGA):c.732T>C (p.Ser244=)
NM_002641.4(PIGA):c.744T>G (p.Pro248=) rs2147718511
NM_002641.4(PIGA):c.789A>T (p.Gly263=)
NM_002641.4(PIGA):c.811T>C (p.Leu271=)
NM_002641.4(PIGA):c.848+15C>G
NM_002641.4(PIGA):c.848+20T>A
NM_002641.4(PIGA):c.848+20T>C
NM_002641.4(PIGA):c.849-16_849-15del rs2147717767
NM_002641.4(PIGA):c.852G>T (p.Val284=)
NM_002641.4(PIGA):c.864A>T (p.Gly288=)
NM_002641.4(PIGA):c.924C>G (p.Thr308=) rs144162396
NM_002641.4(PIGA):c.930T>C (p.Leu310=)
NM_002641.4(PIGA):c.954C>T (p.Ile318=) rs1353341156
NM_002641.4(PIGA):c.960A>G (p.Glu320=)
NM_002641.4(PIGA):c.981+11T>A
NM_002641.4(PIGA):c.982-17CTTT[2] rs763470538
NM_002641.4(PIGA):c.982-4T>A rs1555944399
NM_002641.4(PIGA):c.982-4T>G rs1555944399
NM_002641.4(PIGA):c.982-9C>G
NM_002641.4(PIGA):c.982-9del rs1555944408
NM_002641.4(PIGA):c.984T>C (p.Val328=) rs2147717510

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