ClinVar Miner

List of variants reported as uncertain significance for familial hemolytic anemia by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (77):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys) rs28929480 0.00013
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp) rs142542271 0.00009
NC_000023.11:g.154534338dup rs2148330517
NM_000037.4(ANK1):c.1143del (p.Asn382fs)
NM_000037.4(ANK1):c.1228G>A (p.Val410Met)
NM_000037.4(ANK1):c.5230C>G (p.Pro1744Ala)
NM_000037.4(ANK1):c.5395-1079G>A
NM_000037.4(ANK1):c.5395-1085T>G
NM_000298.6(PKLR):c.1436+116_1618+124delinsC
NM_000365.6(TPI1):c.698G>C (p.Gly233Ala)
NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)
NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1]) rs11281795
NM_001142864.4(PIEZO1):c.4573C>G (p.Leu1525Val)
NM_001321759.2(CDIN1):c.206A>G (p.Tyr69Cys)
NM_001355436.2(SPTB):c.1663G>A (p.Glu555Lys)
NM_001355436.2(SPTB):c.2915A>G (p.Asp972Gly)
NM_001355436.2(SPTB):c.326G>A (p.Arg109His)
NM_001355436.2(SPTB):c.4618A>G (p.Arg1540Gly)
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001367805.3(KIF23):c.1324A>G (p.Arg442Gly)
NM_001376013.1(EPB41):c.2563G>A (p.Val855Ile)
NM_001386140.1(MTTP):c.1834G>C (p.Gly612Arg)
NM_001386140.1(MTTP):c.2620A>G (p.Asn874Asp) rs2110239476
NM_003126.4(SPTA1):c.1690C>T (p.Arg564Trp)
NM_003126.4(SPTA1):c.6789-17_6789-16insTG
NM_006363.6(SEC23B):c.902G>A (p.Gly301Asp)
NM_017534.6(MYH2):c.680A>G (p.Asn227Ser)

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