ClinVar Miner

List of variants in gene FANCM reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013 0.00049
NM_020937.4(FANCM):c.269C>T (p.Pro90Leu) rs142904668 0.00032
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_020937.4(FANCM):c.163G>A (p.Asp55Asn) rs148017562 0.00026
NM_020937.4(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545 0.00020
NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) rs149348098 0.00015
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.5683T>C (p.Cys1895Arg) rs148945714 0.00003
NM_020937.4(FANCM):c.2575A>G (p.Lys859Glu) rs188528606 0.00002
NM_020937.4(FANCM):c.352A>G (p.Thr118Ala) rs1227473930 0.00002
NM_020937.4(FANCM):c.1072G>A (p.Glu358Lys) rs746643140 0.00001
NM_020937.4(FANCM):c.3587G>A (p.Arg1196His) rs751441742 0.00001
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) rs757391108 0.00001
NM_020937.4(FANCM):c.4519G>A (p.Val1507Ile) rs945620719 0.00001
NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp) rs1232508556 0.00001
NM_020937.4(FANCM):c.5838G>C (p.Lys1946Asn) rs1060501893 0.00001
NM_020937.4(FANCM):c.1006C>A (p.Leu336Met) rs2139160369
NM_020937.4(FANCM):c.103C>T (p.Pro35Ser) rs2139100124
NM_020937.4(FANCM):c.1238A>G (p.Tyr413Cys) rs771835190
NM_020937.4(FANCM):c.1397-14A>T rs757351765
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1784_1785dup (p.Arg596fs) rs2139205498
NM_020937.4(FANCM):c.179C>T (p.Ala60Val) rs200717151
NM_020937.4(FANCM):c.2617G>A (p.Gly873Ser) rs538729337
NM_020937.4(FANCM):c.3676G>A (p.Asp1226Asn) rs2139250484
NM_020937.4(FANCM):c.4566T>C (p.Asp1522=) rs375131983
NM_020937.4(FANCM):c.4586A>G (p.Asp1529Gly) rs1889328925
NM_020937.4(FANCM):c.4781T>A (p.Ile1594Asn) rs1594814599
NM_020937.4(FANCM):c.5809T>G (p.Cys1937Gly) rs2139328430

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