ClinVar Miner

List of variants in gene FANCM reported by Mendelics

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val) rs146436929 0.00017
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys) rs139074680 0.00013
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe) rs201017015 0.00012
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr) rs771311008 0.00004
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_020937.4(FANCM):c.4318-3T>G rs367696095 0.00003
NM_020937.4(FANCM):c.1919T>C (p.Met640Thr) rs768830366 0.00001
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser) rs771875070 0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665 0.00001
NM_020937.4(FANCM):c.1571A>G (p.Glu524Gly) rs2139187033
NM_020937.4(FANCM):c.2074T>C (p.Tyr692His) rs2139226539
NM_020937.4(FANCM):c.2582T>G (p.Ile861Arg) rs901858017
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser) rs1594799862
NM_020937.4(FANCM):c.4007T>A (p.Val1336Asp) rs2139253003
NM_020937.4(FANCM):c.412G>A (p.Val138Ile) rs770929563
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn) rs1245071059
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val) rs755563315
NM_020937.4(FANCM):c.5801T>C (p.Phe1934Ser) rs2139328386
NM_020937.4(FANCM):c.767A>G (p.Gln256Arg) rs2139151348
NM_020937.4(FANCM):c.857T>C (p.Val286Ala) rs2139151919

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