ClinVar Miner

List of variants in gene FANCM, LOC130055524 studied for anemia

Included ClinVar conditions (292):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) rs146609069 0.00011
NM_020937.4(FANCM):c.93A>G (p.Arg31=) rs112641528 0.00007
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys) rs199699785 0.00006
NM_020937.4(FANCM):c.56C>T (p.Ser19Leu) rs201383385 0.00003
NM_020937.4(FANCM):c.68C>A (p.Pro23Gln) rs377031191 0.00003
NM_020937.4(FANCM):c.63G>C (p.Gly21=) rs563248675 0.00002
NM_020937.4(FANCM):c.88G>C (p.Glu30Gln) rs373268822 0.00002
NM_020937.4(FANCM):c.98A>G (p.Gln33Arg) rs759911498 0.00001
NC_000014.8:g.(?_45605225)_(45609922_?)dup
NM_020937.4(FANCM):c.54A>G (p.Arg18=) rs1885467009
NM_020937.4(FANCM):c.69G>C (p.Pro23=)
NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)
NM_020937.4(FANCM):c.71G>T (p.Gly24Val) rs1885468827
NM_020937.4(FANCM):c.75C>T (p.Cys25=) rs1885469049
NM_020937.4(FANCM):c.78C>T (p.Ser26=)
NM_020937.4(FANCM):c.80C>T (p.Ser27Phe) rs1885469771
NM_020937.4(FANCM):c.81C>T (p.Ser27=) rs1388168603
NM_020937.4(FANCM):c.81del (p.Gly28fs) rs2139099848
NM_020937.4(FANCM):c.83G>T (p.Gly28Val) rs1885470299
NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)
NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)

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