ClinVar Miner

List of variants studied for hemoglobinuria

Included ClinVar conditions (6):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NC_000003.12:g.169765160G>C rs199422256
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) rs370184382
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) rs776974834

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