ClinVar Miner

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

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000037.4(ANK1):c.2637G>T (p.Gln879His)
NM_000037.4(ANK1):c.290_291delinsCAAC (p.Leu97fs)
NM_000037.4(ANK1):c.389_390delinsCAAC (p.Leu130fs)
NM_000037.4(ANK1):c.895C>T (p.Gln299Ter)
NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)
NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)
NM_000298.6(PKLR):c.914G>A (p.Gly305Glu)
NM_000342.4(SLC4A1):c.2115C>G (p.Asp705Glu)
NM_000342.4(SLC4A1):c.2492G>A (p.Trp831Ter)
NM_000365.6(TPI1):c.32del (p.Gly11fs)
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer)
NM_000637.5(GSR):c.640G>A (p.Gly214Ser)
NM_001142864.4(PIEZO1):c.157del (p.Gln53fs)
NM_001355436.2(SPTB):c.4473+1G>A
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) rs2148331875
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) rs2148331380
NM_001360016.2(G6PD):c.848A>T (p.Asp283Val) rs1557230040
NM_001376013.1(EPB41):c.902C>G (p.Thr301Arg)
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) rs387907207
NM_003126.4(SPTA1):c.4894A>G (p.Met1632Val)

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