ClinVar Miner

List of variants in gene FANCA reported by GeneDx

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Total variants: 16
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HGVS dbSNP
NM_000135.2(FANCA):c.1359+5G>C rs183569738
NM_000135.2(FANCA):c.1421T>C (p.Phe474Ser) rs1057524800
NM_000135.2(FANCA):c.1471-3C>G rs1291307989
NM_000135.2(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.2(FANCA):c.1776+1G>A rs756140957
NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.2(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.2(FANCA):c.3468G>A (p.Leu1156=) rs1057520822
NM_000135.2(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.2(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.2(FANCA):c.3655G>A (p.Ala1219Thr) rs1064796909
NM_000135.2(FANCA):c.709+1G>C rs753211631
NM_000135.2(FANCA):c.987_990delTCAC (p.His330Alafs) rs772359099

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