ClinVar Miner

List of variants reported as pathogenic for familial hemolytic anemia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
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_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp) rs121918222 0.00017
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_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00006
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_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_003126.4(SPTA1):c.2671C>T (p.Arg891Ter) rs755630903 0.00001
NM_000298.6(PKLR):c.1618+1del
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_006363.6(SEC23B):c.279+2T>C
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)

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