ClinVar Miner

List of variants in gene FANCM reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) rs113819179 0.00254
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.2268C>A (p.Arg756=) rs146061601 0.00128
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_020937.4(FANCM):c.5067G>A (p.Ala1689=) rs148900115 0.00051
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.5108A>G (p.His1703Arg) rs146897650 0.00021
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979 0.00014
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys) rs200173413 0.00006
NM_020937.4(FANCM):c.2452A>G (p.Ile818Val) rs199948045 0.00006
NM_020937.4(FANCM):c.4776G>A (p.Ser1592=) rs964884247 0.00005
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=) rs771150480 0.00002
NM_020937.4(FANCM):c.1411G>A (p.Glu471Lys) rs543029493 0.00001
NM_020937.4(FANCM):c.1655T>C (p.Ile552Thr) rs200240871 0.00001
NM_020937.4(FANCM):c.2721T>G (p.Ala907=) rs150172333 0.00001
NM_020937.4(FANCM):c.4464C>T (p.Asn1488=) rs376583120 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly) rs199514189 0.00001
NM_020937.4(FANCM):c.1648T>C (p.Leu550=) rs776733099
NM_020937.4(FANCM):c.1788+2T>A
NM_020937.4(FANCM):c.1847G>C (p.Arg616Thr) rs2139214385
NM_020937.4(FANCM):c.2531A>G (p.His844Arg)
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2777_2778del (p.Glu926fs)
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer) rs2139244126
NM_020937.4(FANCM):c.2922C>A (p.Asp974Glu) rs1888633712
NM_020937.4(FANCM):c.3297T>G (p.Arg1099=)
NM_020937.4(FANCM):c.336dup (p.Thr113fs) rs2139102686
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256
NM_020937.4(FANCM):c.4005dup (p.Val1336fs) rs746983128
NM_020937.4(FANCM):c.4161T>C (p.Ser1387=)
NM_020937.4(FANCM):c.4286_4287insTTAAAAGTTAAAAG (p.Arg1429delinsSerTer) rs1889064732
NM_020937.4(FANCM):c.4839T>A (p.Ser1613=)
NM_020937.4(FANCM):c.5628T>C (p.Asn1876=) rs1039452790
NM_020937.4(FANCM):c.876G>T (p.Pro292=) rs150757891

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