ClinVar Miner

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

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Total variants: 6
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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.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.2777_2778del (p.Glu926fs)
NM_020937.4(FANCM):c.336dup (p.Thr113fs) rs2139102686
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter) rs751795256

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