ClinVar Miner

List of variants in gene FANCA reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) rs550821697 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NC_000016.9:g.(89818631_89824984)_(89883066_?)dup
NC_000016.9:g.(89877480_89880927)_(89883066_?)dup
NM_000135.4(FANCA):c.1715+8G>A rs1209332039
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) rs146491000
NM_000135.4(FANCA):c.199C>A (p.Pro67Thr) rs575469396
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) rs763856094

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