ClinVar Miner

List of variants in gene combination AIFM1, RAB33A reported as uncertain significance by Ambry Genetics

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.724A>G (p.Met242Val) rs138123187 0.00017
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr) rs772308346 0.00010
NM_004208.4(AIFM1):c.1075+4G>C rs374943447 0.00009
NM_004208.4(AIFM1):c.1156G>A (p.Gly386Ser) rs746155778 0.00005
NM_004208.4(AIFM1):c.1036G>A (p.Glu346Lys) rs746856770 0.00004
NM_004208.4(AIFM1):c.1045A>G (p.Ser349Gly) rs773200122 0.00004
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp) rs369523358 0.00004
NM_004208.4(AIFM1):c.1465G>A (p.Asp489Asn) rs748493176 0.00002
NM_004208.4(AIFM1):c.1663G>A (p.Val555Ile) rs201753098 0.00002
NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala) rs1356446773 0.00001
NM_004208.4(AIFM1):c.350C>T (p.Ala117Val) rs145943366 0.00001
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met) rs200114054 0.00001
NM_004208.4(AIFM1):c.1114G>A (p.Val372Ile) rs1056740593
NM_004208.4(AIFM1):c.122G>A (p.Arg41Gln)
NM_004208.4(AIFM1):c.1409C>G (p.Thr470Ser)
NM_004208.4(AIFM1):c.1448+5T>C
NM_004208.4(AIFM1):c.1534A>G (p.Thr512Ala)
NM_004208.4(AIFM1):c.1676A>G (p.Asp559Gly)
NM_004208.4(AIFM1):c.238G>A (p.Ala80Thr) rs1603230120
NM_004208.4(AIFM1):c.249+1202C>A
NM_004208.4(AIFM1):c.249+1226G>C rs891049157
NM_004208.4(AIFM1):c.406C>A (p.Leu136Ile)
NM_004208.4(AIFM1):c.530A>G (p.Lys177Arg)
NM_004208.4(AIFM1):c.571C>G (p.Leu191Val)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004208.4(AIFM1):c.658A>G (p.Ile220Val)

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