ClinVar Miner

List of variants studied for Familial hemolytic anemia

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_001355436.2(SPTB):c.6271C>A (p.Pro2091Thr) rs372733273 0.00006
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) rs1348311492
NM_001142864.4(PIEZO1):c.1126C>G (p.Pro376Ala) rs1474972037
NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met) rs1555364746
NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val) rs1555364743
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile) rs1557230573
NM_003126.4(SPTA1):c.3291G>A (p.Trp1097Ter) rs1553231217
NM_003126.4(SPTA1):c.6600+5G>T rs1462060431
NM_022437.3(ABCG8):c.-27G>A rs779984848
NM_172351.3(CD46):c.402T>G (p.Ile134Met) rs1553250568

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