ClinVar Miner

List of variants in gene AFF2 studied for Inborn genetic diseases

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002025.4(AFF2):c.3268T>A (p.Phe1090Ile) rs147991137 0.00029
NM_002025.4(AFF2):c.561C>A (p.Asp187Glu) rs201152809 0.00014
NM_002025.4(AFF2):c.3589G>A (p.Ala1197Thr) rs373659849 0.00013
NM_002025.4(AFF2):c.1541G>C (p.Arg514Pro) rs369100046 0.00005
NM_002025.4(AFF2):c.1445G>C (p.Gly482Ala) rs145907183 0.00004
NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn) rs1029815702 0.00003
NM_002025.4(AFF2):c.233A>G (p.Tyr78Cys) rs374628192 0.00002
NM_002025.4(AFF2):c.2830G>A (p.Ala944Thr) rs911146585 0.00002
NM_002025.4(AFF2):c.3100C>A (p.Leu1034Ile) rs782243009 0.00002
NM_002025.4(AFF2):c.263A>G (p.His88Arg) rs782381902 0.00001
NM_002025.4(AFF2):c.3346G>A (p.Asp1116Asn) rs782493302 0.00001
NM_002025.4(AFF2):c.1129A>G (p.Thr377Ala) rs2070544297
NM_002025.4(AFF2):c.114G>T (p.Gln38His)
NM_002025.4(AFF2):c.1169G>C (p.Gly390Ala)
NM_002025.4(AFF2):c.1210+1G>A rs2070619300
NM_002025.4(AFF2):c.1330A>G (p.Thr444Ala)
NM_002025.4(AFF2):c.1397+5G>A
NM_002025.4(AFF2):c.1660G>A (p.Glu554Lys) rs2072025431
NM_002025.4(AFF2):c.1773C>T (p.Leu591=)
NM_002025.4(AFF2):c.1795C>T (p.Arg599Trp)
NM_002025.4(AFF2):c.1811T>C (p.Ile604Thr)
NM_002025.4(AFF2):c.1877T>C (p.Ile626Thr)
NM_002025.4(AFF2):c.1945A>G (p.Asn649Asp)
NM_002025.4(AFF2):c.2046A>G (p.Lys682=)
NM_002025.4(AFF2):c.2050C>T (p.Pro684Ser)
NM_002025.4(AFF2):c.2132T>C (p.Ile711Thr)
NM_002025.4(AFF2):c.2498C>A (p.Thr833Lys)
NM_002025.4(AFF2):c.251T>C (p.Leu84Ser)
NM_002025.4(AFF2):c.2608C>T (p.Arg870Cys)
NM_002025.4(AFF2):c.2623A>G (p.Thr875Ala)
NM_002025.4(AFF2):c.2675C>T (p.Pro892Leu)
NM_002025.4(AFF2):c.27C>T (p.Asp9=)
NM_002025.4(AFF2):c.2929A>G (p.Lys977Glu)
NM_002025.4(AFF2):c.2956G>A (p.Val986Ile)
NM_002025.4(AFF2):c.3034G>A (p.Ala1012Thr)
NM_002025.4(AFF2):c.3035C>T (p.Ala1012Val) rs1557288822
NM_002025.4(AFF2):c.3098G>A (p.Gly1033Asp) rs2072185643
NM_002025.4(AFF2):c.317C>T (p.Pro106Leu)
NM_002025.4(AFF2):c.3203+1G>A rs2072188268
NM_002025.4(AFF2):c.3712C>T (p.Arg1238Cys)
NM_002025.4(AFF2):c.3883C>T (p.Arg1295Cys)
NM_002025.4(AFF2):c.475T>C (p.Trp159Arg)
NM_002025.4(AFF2):c.492T>C (p.His164=)
NM_002025.4(AFF2):c.613C>A (p.Gln205Lys)
NM_002025.4(AFF2):c.76A>T (p.Lys26Ter) rs1557256416

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