ClinVar Miner

List of variants in gene FANCM reported as pathogenic for not provided

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Total variants: 13
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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.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter) rs751954386 0.00003
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs) rs757391108 0.00001
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter) rs778744393
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2777_2778del (p.Glu926fs)
NM_020937.4(FANCM):c.2827del (p.Asp943fs)
NM_020937.4(FANCM):c.336dup (p.Thr113fs) rs2139102686
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256
NM_020937.4(FANCM):c.4634_4637delinsCAACTTTCCTCATTACTTGACTCAACATTACTTGACTCAACTCAACTC (p.Phe1545_Leu1546delinsSerThrPheLeuIleThrTer) rs1594810654
NM_020937.4(FANCM):c.5707G>T (p.Glu1903Ter)

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