ClinVar Miner

List of variants studied for hemolytic anemia by Baylor Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro) rs147223483 0.00101
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_001355436.2(SPTB):c.774G>A (p.Thr258=) rs12435635 0.00051
NM_138477.4(CDAN1):c.982G>A (p.Val328Ile) rs144448301 0.00050
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg) rs371901013 0.00033
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) rs143599352 0.00026
NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser) rs543791953 0.00022
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00002
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_138477.4(CDAN1):c.3043C>T (p.Arg1015Cys) rs764025922 0.00002
NM_000037.4(ANK1):c.1066G>A (p.Val356Ile) rs199832220 0.00001
NM_000175.5(GPI):c.1498G>A (p.Val500Ile) rs552424309 0.00001
NM_000175.5(GPI):c.640A>G (p.Thr214Ala) rs536683131 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys) rs1172702857 0.00001
NM_000188.3(HK1):c.2519C>T (p.Ala840Val) rs373871387 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) rs41291965 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.1500+1G>A rs770066278 0.00001
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) rs768553877 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001386140.1(MTTP):c.393+5A>G rs771577895 0.00001
NM_003126.4(SPTA1):c.3189-13A>G rs776423390 0.00001
NM_003126.4(SPTA1):c.4180del (p.Cys1394fs) rs779174182 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_000037.4(ANK1):c.1376del (p.Asn459fs)
NM_000037.4(ANK1):c.1693G>T (p.Ala565Ser) rs1827218179
NM_000037.4(ANK1):c.1828G>T (p.Ala610Ser)
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) rs139035514
NM_000289.6(PFKM):c.-8-2A>G
NM_000289.6(PFKM):c.1042del (p.Leu348fs)
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) rs1064795749
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) rs121918193
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
NM_000289.6(PFKM):c.1338del (p.Gln447fs) rs2135995131
NM_000289.6(PFKM):c.1341+1G>A
NM_000289.6(PFKM):c.1413-64A>G rs1202417178
NM_000289.6(PFKM):c.1459_1463del (p.Thr486_Lys487insTer)
NM_000289.6(PFKM):c.1500+2T>A
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) rs866260025
NM_000289.6(PFKM):c.1614dup (p.Ser539fs)
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) rs1233958453
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
NM_000289.6(PFKM):c.420del (p.Ala142fs)
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) rs866904446
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
NM_000289.6(PFKM):c.85+1G>A
NM_000289.6(PFKM):c.86-1G>C
NM_000289.6(PFKM):c.877dup (p.Val293fs)
NM_000289.6(PFKM):c.936+2T>G
NM_000324.3(RHAG):c.974A>G (p.His325Arg)
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg) rs878853002
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_001142864.4(PIEZO1):c.1020+14A>G rs956707579
NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln) rs753296407
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His) rs774268616
NM_001142864.4(PIEZO1):c.849-5G>A rs1905373372
NM_001355436.2(SPTB):c.6181T>G (p.Trp2061Gly) rs1690651311
NM_001358263.1(HK1):c.75+20336T>A rs769395943
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro) rs137852324
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) rs1726269709
NM_001386140.1(MTTP):c.502-2A>G rs1725410386
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_003126.4(SPTA1):c.3163C>T (p.Gln1055Ter) rs1652590413
NM_003126.4(SPTA1):c.6376G>T (p.Val2126Leu) rs1210432921
NM_003126.4(SPTA1):c.6697T>C (p.Tyr2233His) rs1649487063
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) rs1649424538
NM_006363.6(SEC23B):c.-14-1G>A rs967988810
NM_006516.4(SLC2A1):c.19-2A>G rs796053272

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