ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as pathogenic by OMIM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu) rs1603223152
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.422C>T (p.Thr141Ile) rs1603227409
NM_004208.4(AIFM1):c.603_605del (p.Arg201del) rs387906500
NM_004208.4(AIFM1):c.697-44T>G rs1603225182
NM_004208.4(AIFM1):c.705G>C (p.Gln235His) rs377527583
NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly) rs1202786652
NM_004208.4(AIFM1):c.720C>T (p.Asp240=) rs1569418673
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) rs1603225138
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser) rs1603224817
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) rs1603224226

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