ClinVar Miner

List of variants in gene FANCA reported as not provided for Fanconi anemia complementation group A

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val) rs142620413 0.00003
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr) rs752532498 0.00002
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887

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