ClinVar Miner

List of variants in gene AFF3 reported as uncertain significance for Inborn genetic diseases

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Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_001386135.1(AFF3):c.961C>T (p.Pro321Ser) rs35309181 0.00032
NM_001386135.1(AFF3):c.775G>A (p.Val259Met) rs200905671 0.00016
NM_001386135.1(AFF3):c.2062T>C (p.Tyr688His) rs201768114 0.00015
NM_001386135.1(AFF3):c.1372G>A (p.Ala458Thr) rs369764382 0.00014
NM_001386135.1(AFF3):c.2499G>C (p.Lys833Asn) rs375097034 0.00011
NM_001386135.1(AFF3):c.2629C>T (p.Arg877Trp) rs190577667 0.00006
NM_001386135.1(AFF3):c.3388G>A (p.Val1130Met) rs143764541 0.00006
NM_001386135.1(AFF3):c.2402C>T (p.Pro801Leu) rs897323624 0.00005
NM_001386135.1(AFF3):c.2482G>A (p.Asp828Asn) rs137896821 0.00005
NM_001386135.1(AFF3):c.325G>A (p.Asp109Asn) rs556588114 0.00005
NM_001386135.1(AFF3):c.3322G>C (p.Gly1108Arg) rs542558981 0.00004
NM_001386135.1(AFF3):c.764C>T (p.Ser255Leu) rs1352670162 0.00004
NM_001386135.1(AFF3):c.893C>T (p.Thr298Ile) rs369314956 0.00004
NM_001386135.1(AFF3):c.2524T>C (p.Ser842Pro) rs999156963 0.00003
NM_001386135.1(AFF3):c.1811G>A (p.Arg604Gln) rs768129401 0.00002
NM_001386135.1(AFF3):c.1816G>A (p.Glu606Lys) rs577355287 0.00002
NM_001386135.1(AFF3):c.2461C>G (p.Arg821Gly) rs370117202 0.00002
NM_001386135.1(AFF3):c.3155A>G (p.Asn1052Ser) rs555484972 0.00002
NM_001386135.1(AFF3):c.386C>T (p.Thr129Ile) rs1175707423 0.00002
NM_001386135.1(AFF3):c.571G>A (p.Val191Met) rs200144563 0.00002
NM_001386135.1(AFF3):c.601G>C (p.Ala201Pro) rs199949877 0.00002
NM_001386135.1(AFF3):c.1070A>G (p.Asp357Gly) rs767471031 0.00001
NM_001386135.1(AFF3):c.1108C>T (p.Leu370Phe) rs1232476839 0.00001
NM_001386135.1(AFF3):c.1474G>A (p.Glu492Lys) rs146863005 0.00001
NM_001386135.1(AFF3):c.1769G>A (p.Arg590His) rs769535841 0.00001
NM_001386135.1(AFF3):c.2497A>G (p.Lys833Glu) rs766957717 0.00001
NM_001386135.1(AFF3):c.2509G>A (p.Gly837Arg) rs2546051419 0.00001
NM_001386135.1(AFF3):c.3127A>G (p.Met1043Val) rs778979887 0.00001
NM_001386135.1(AFF3):c.3349C>G (p.Pro1117Ala) rs200197052 0.00001
NM_001386135.1(AFF3):c.544C>T (p.Arg182Trp) rs763023882 0.00001
NM_001386135.1(AFF3):c.74A>G (p.Asn25Ser) rs756046095 0.00001
NM_001386135.1(AFF3):c.962C>T (p.Pro321Leu) rs199825738 0.00001
NM_001386135.1(AFF3):c.1046G>T (p.Gly349Val)
NM_001386135.1(AFF3):c.1103A>G (p.Asp368Gly)
NM_001386135.1(AFF3):c.1105G>A (p.Asp369Asn)
NM_001386135.1(AFF3):c.1222C>T (p.Pro408Ser)
NM_001386135.1(AFF3):c.1235G>A (p.Gly412Asp)
NM_001386135.1(AFF3):c.1261A>C (p.Ser421Arg) rs1679836893
NM_001386135.1(AFF3):c.1262G>C (p.Ser421Thr) rs771811951
NM_001386135.1(AFF3):c.1338G>C (p.Glu446Asp) rs761561601
NM_001386135.1(AFF3):c.1369G>A (p.Glu457Lys)
NM_001386135.1(AFF3):c.1369G>C (p.Glu457Gln) rs1037961125
NM_001386135.1(AFF3):c.1429C>A (p.Pro477Thr) rs756496394
NM_001386135.1(AFF3):c.1432C>G (p.His478Asp) rs2546112780
NM_001386135.1(AFF3):c.1472C>T (p.Ser491Leu) rs2546111960
NM_001386135.1(AFF3):c.1525A>G (p.Lys509Glu)
NM_001386135.1(AFF3):c.1546C>T (p.Pro516Ser) rs760559169
NM_001386135.1(AFF3):c.1568T>C (p.Ile523Thr) rs2546109966
NM_001386135.1(AFF3):c.1606G>C (p.Ala536Pro)
NM_001386135.1(AFF3):c.1660G>T (p.Val554Leu)
NM_001386135.1(AFF3):c.1666G>C (p.Val556Leu)
NM_001386135.1(AFF3):c.1700T>C (p.Val567Ala) rs2546106419
NM_001386135.1(AFF3):c.1702C>A (p.Pro568Thr)
NM_001386135.1(AFF3):c.1712C>T (p.Pro571Leu)
NM_001386135.1(AFF3):c.1714G>T (p.Ala572Ser)
NM_001386135.1(AFF3):c.1748C>G (p.Ala583Gly) rs1464909036
NM_001386135.1(AFF3):c.1751G>C (p.Gly584Ala)
NM_001386135.1(AFF3):c.1825G>T (p.Ala609Ser)
NM_001386135.1(AFF3):c.1834G>T (p.Asp612Tyr) rs2546102176
NM_001386135.1(AFF3):c.1844G>A (p.Gly615Glu) rs1330611030
NM_001386135.1(AFF3):c.1852G>A (p.Val618Met)
NM_001386135.1(AFF3):c.1937C>T (p.Thr646Ile)
NM_001386135.1(AFF3):c.1982A>G (p.Lys661Arg) rs2546098751
NM_001386135.1(AFF3):c.2062T>G (p.Tyr688Asp) rs201768114
NM_001386135.1(AFF3):c.2096C>T (p.Ser699Phe)
NM_001386135.1(AFF3):c.2099C>T (p.Ala700Val) rs769638066
NM_001386135.1(AFF3):c.2176A>T (p.Ile726Phe) rs772272245
NM_001386135.1(AFF3):c.2180A>G (p.Asn727Ser)
NM_001386135.1(AFF3):c.2311G>A (p.Asp771Asn)
NM_001386135.1(AFF3):c.2329A>G (p.Arg777Gly)
NM_001386135.1(AFF3):c.2343C>G (p.His781Gln)
NM_001386135.1(AFF3):c.2417C>T (p.Ser806Leu)
NM_001386135.1(AFF3):c.2564C>T (p.Ala855Val)
NM_001386135.1(AFF3):c.2614A>G (p.Asn872Asp)
NM_001386135.1(AFF3):c.2779G>A (p.Gly927Ser) rs199884902
NM_001386135.1(AFF3):c.2806A>G (p.Asn936Asp)
NM_001386135.1(AFF3):c.2827C>T (p.Leu943Phe)
NM_001386135.1(AFF3):c.2839C>G (p.Arg947Gly) rs756186388
NM_001386135.1(AFF3):c.2849C>T (p.Thr950Met)
NM_001386135.1(AFF3):c.2863C>T (p.Pro955Ser)
NM_001386135.1(AFF3):c.2875G>A (p.Gly959Ser)
NM_001386135.1(AFF3):c.2923C>T (p.Arg975Cys)
NM_001386135.1(AFF3):c.2926A>G (p.Ser976Gly)
NM_001386135.1(AFF3):c.3037G>A (p.Glu1013Lys)
NM_001386135.1(AFF3):c.3115A>C (p.Ile1039Leu)
NM_001386135.1(AFF3):c.3307G>A (p.Ala1103Thr)
NM_001386135.1(AFF3):c.3308C>T (p.Ala1103Val)
NM_001386135.1(AFF3):c.3317C>T (p.Pro1106Leu)
NM_001386135.1(AFF3):c.3367A>C (p.Asn1123His) rs2545772553
NM_001386135.1(AFF3):c.3419G>C (p.Ser1140Thr)
NM_001386135.1(AFF3):c.3440T>A (p.Ile1147Asn) rs1374529051
NM_001386135.1(AFF3):c.3442G>A (p.Val1148Ile)
NM_001386135.1(AFF3):c.488C>T (p.Thr163Ile)
NM_001386135.1(AFF3):c.565G>A (p.Val189Met)
NM_001386135.1(AFF3):c.566T>G (p.Val189Gly) rs2469092669
NM_001386135.1(AFF3):c.664T>A (p.Ser222Thr) rs2469091128
NM_001386135.1(AFF3):c.773G>C (p.Ser258Thr)
NM_001386135.1(AFF3):c.779A>G (p.His260Arg)
NM_001386135.1(AFF3):c.842T>C (p.Leu281Pro)

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