ClinVar Miner

List of variants studied for familial hemolytic anemia by Mendelics

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001243177.4(ALDOA):c.1161+17G>T rs2071390 0.13976
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872 0.00048
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys) rs979416826 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn) rs782317415 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu) rs1557230626 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_000037.4(ANK1):c.*36+989dup rs59908561
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.683G>A (p.Arg228His) rs137852332
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr) rs1853849281
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358263.1(HK1):c.1A>T (p.Met1Leu) rs1589439508
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu) rs2148328905
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) rs137852325
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) rs1603411214
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519

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