ClinVar Miner

List of variants in gene FANCA studied for not provided

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Total variants: 34
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HGVS dbSNP
GRCh37/hg19 16q24.3(chr16:89821155-89854723)x3
NM_000135.2(FANCA):c.1359+10C>T rs34159559
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.1830A>G (p.Ala610=) rs1800338
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.2859C>G (p.Asp953Glu) rs149112292
NM_000135.2(FANCA):c.3348+18A>G rs1800347
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.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.709+2T>C rs1555571116
NM_000135.2(FANCA):c.987_990delTCAC (p.His330Alafs) rs772359099
NM_000135.3(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.3(FANCA):c.1567-1G>T rs1464032361
NM_000135.3(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.3(FANCA):c.2915G>C (p.Gly972Ala) rs1555542929
NM_000135.3(FANCA):c.3344A>G (p.Glu1115Gly) rs1057520051
NM_000135.3(FANCA):c.559G>A (p.Val187Ile) rs761538996
NM_000135.3(FANCA):c.778G>A (p.Glu260Lys) rs201992220
NM_000135.3(FANCA):c.863_866dup (p.Ser290Valfs) rs1348367722
NM_000135.4(FANCA):c.1652T>C (p.Val551Ala)
NM_000135.4(FANCA):c.2477C>G (p.Thr826Arg)
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
NM_000135.4(FANCA):c.3613C>T (p.Gln1205Ter)
NM_000135.4(FANCA):c.744dup (p.Lys249Glufs)
NM_000135.4(FANCA):c.793-1G>A

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