ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Myriad Genetics, Inc.

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00007
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter) rs1266348463 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter) rs773687142
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter) rs2040091746
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter) rs2544273183
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter) rs2039845162
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter) rs2039768709
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter) rs1012809189
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter) rs938278864
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter) rs2544213738
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter) rs2143367693
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter) rs140785340
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter) rs2544207436
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter) rs1338018512
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter) rs2039261844
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter) rs772477788
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter) rs2039260856
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter) rs2038967261
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter) rs758384536
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter) rs2038618125
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter) rs140412064
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter) rs147176389
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter) rs2038519770
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter) rs1164540064
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter) rs2038398856
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter) rs2062172011
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter) rs2040857662
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter) rs752126515
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter) rs1419169954
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter) rs1454055874
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter) rs775697743
NM_000135.4(FANCA):c.714dup (p.Val239fs) rs2544322402
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320

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