ClinVar Miner

List of variants studied for anemia, nonspherocytic hemolytic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
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_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.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331 0.00004
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330 0.00003
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890

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