ClinVar Miner

List of variants in gene AFF4 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_014423.4(AFF4):c.3216G>A (p.Gly1072=) rs145016393 0.00074
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_014423.4(AFF4):c.918T>C (p.Asp306=) rs146532485 0.00067
NM_014423.4(AFF4):c.427G>A (p.Gly143Ser) rs111367848 0.00062
NM_014423.4(AFF4):c.1927A>G (p.Ile643Val) rs143974944 0.00059
NM_014423.4(AFF4):c.472A>C (p.Asn158His) rs147286490 0.00022
NM_014423.4(AFF4):c.2733-7C>G rs373289956 0.00021
NM_014423.4(AFF4):c.2669C>T (p.Pro890Leu) rs200457433 0.00017
NM_014423.4(AFF4):c.963+12A>T rs574567133 0.00012
NM_014423.4(AFF4):c.1586C>T (p.Pro529Leu) rs188073736 0.00011
NM_014423.4(AFF4):c.2470C>T (p.Pro824Ser) rs200646130 0.00011
NM_014423.4(AFF4):c.3261G>A (p.Gln1087=) rs369587813 0.00010
NM_014423.4(AFF4):c.1209G>A (p.Pro403=) rs186301624 0.00006
NM_014423.4(AFF4):c.177C>T (p.Tyr59=) rs367549038 0.00006
NM_014423.4(AFF4):c.3006-20C>T rs146517201 0.00006
NM_014423.4(AFF4):c.624A>G (p.Gln208=) rs201137637 0.00006
NM_014423.4(AFF4):c.411C>T (p.Ser137=) rs776471901 0.00005
NM_014423.4(AFF4):c.963+15A>C rs199651569 0.00005
NM_014423.4(AFF4):c.81C>T (p.Ala27=) rs148617173 0.00004
NM_014423.4(AFF4):c.909A>G (p.Gln303=) rs749521715 0.00004
NM_014423.4(AFF4):c.180T>C (p.Asp60=) rs1019841391 0.00003
NM_014423.4(AFF4):c.2601C>T (p.Thr867=) rs77247092 0.00003
NM_014423.4(AFF4):c.2638-17del rs1451005769 0.00003
NM_014423.4(AFF4):c.2308-6A>G rs369340003 0.00002
NM_014423.4(AFF4):c.1728A>G (p.Glu576=) rs1012038410 0.00001
NM_014423.4(AFF4):c.2121G>A (p.Glu707=) rs1246577547 0.00001
NM_014423.4(AFF4):c.2250A>G (p.Arg750=) rs763815070 0.00001
NM_014423.4(AFF4):c.2760A>G (p.Gln920=) rs754506500 0.00001
NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala) rs780871066 0.00001
NM_014423.4(AFF4):c.3411T>C (p.Asn1137=) rs2046255303 0.00001
NM_014423.4(AFF4):c.354T>C (p.Ser118=) rs530630775 0.00001
NM_014423.4(AFF4):c.102C>G (p.Leu34=)
NM_014423.4(AFF4):c.1041T>C (p.Phe347=)
NM_014423.4(AFF4):c.1050+18A>G
NM_014423.4(AFF4):c.1051-17A>C rs55844143
NM_014423.4(AFF4):c.1051-17A>G
NM_014423.4(AFF4):c.1051-17A>T
NM_014423.4(AFF4):c.1051-5C>G
NM_014423.4(AFF4):c.1051-5_1051-3del rs767179390
NM_014423.4(AFF4):c.1062G>A (p.Gln354=) rs764565803
NM_014423.4(AFF4):c.1087+10del rs761464819
NM_014423.4(AFF4):c.1087+19_1087+22del
NM_014423.4(AFF4):c.1087+7_1087+10del
NM_014423.4(AFF4):c.1088-13C>A
NM_014423.4(AFF4):c.1095T>C (p.Tyr365=)
NM_014423.4(AFF4):c.1104T>C (p.Ser368=)
NM_014423.4(AFF4):c.1133+9A>T rs1482551617
NM_014423.4(AFF4):c.1134-15G>C
NM_014423.4(AFF4):c.1134-16T>C
NM_014423.4(AFF4):c.1135A>G (p.Met379Val)
NM_014423.4(AFF4):c.114A>T (p.Pro38=)
NM_014423.4(AFF4):c.1226+13T>C rs2150074707
NM_014423.4(AFF4):c.1226+17T>A rs202185420
NM_014423.4(AFF4):c.1226+18T>A
NM_014423.4(AFF4):c.1227-15T>C
NM_014423.4(AFF4):c.123+18G>C
NM_014423.4(AFF4):c.124-18T>A
NM_014423.4(AFF4):c.124-20T>C rs1290814239
NM_014423.4(AFF4):c.124-27ATTTT[3] rs771676566
NM_014423.4(AFF4):c.1284T>C (p.Ser428=)
NM_014423.4(AFF4):c.1389+13C>T
NM_014423.4(AFF4):c.1390-19A>C
NM_014423.4(AFF4):c.1401G>T (p.Pro467=) rs138376057
NM_014423.4(AFF4):c.1488C>T (p.Ile496=)
NM_014423.4(AFF4):c.1554A>G (p.Thr518=)
NM_014423.4(AFF4):c.1557T>C (p.Ser519=)
NM_014423.4(AFF4):c.1620A>G (p.Ser540=)
NM_014423.4(AFF4):c.1768G>A (p.Val590Ile)
NM_014423.4(AFF4):c.1824A>G (p.Ser608=)
NM_014423.4(AFF4):c.1836T>C (p.Asn612=) rs768832734
NM_014423.4(AFF4):c.2016T>C (p.Asn672=)
NM_014423.4(AFF4):c.2028T>C (p.Val676=)
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu) rs1581278077
NM_014423.4(AFF4):c.2174G>C (p.Arg725Thr) rs138811630
NM_014423.4(AFF4):c.2274A>G (p.Glu758=)
NM_014423.4(AFF4):c.2307+18del
NM_014423.4(AFF4):c.2308-19G>A
NM_014423.4(AFF4):c.2397-18A>G
NM_014423.4(AFF4):c.2521T>C (p.Leu841=)
NM_014423.4(AFF4):c.2637+20G>A
NM_014423.4(AFF4):c.2637+8G>T
NM_014423.4(AFF4):c.2638-16A>G
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
NM_014423.4(AFF4):c.2661T>C (p.Ser887=)
NM_014423.4(AFF4):c.2721C>A (p.Val907=)
NM_014423.4(AFF4):c.2724T>C (p.Phe908=)
NM_014423.4(AFF4):c.2733-9G>A
NM_014423.4(AFF4):c.2796+14C>T
NM_014423.4(AFF4):c.2796+19del
NM_014423.4(AFF4):c.2797-7T>G
NM_014423.4(AFF4):c.2934-19_2934-11del
NM_014423.4(AFF4):c.2934-20_2934-19dup
NM_014423.4(AFF4):c.3003T>C (p.Leu1001=)
NM_014423.4(AFF4):c.3006-19G>A
NM_014423.4(AFF4):c.3015C>T (p.Cys1005=)
NM_014423.4(AFF4):c.3021T>C (p.Ser1007=)
NM_014423.4(AFF4):c.3054G>A (p.Lys1018=)
NM_014423.4(AFF4):c.3093C>T (p.His1031=)
NM_014423.4(AFF4):c.3099+8T>G
NM_014423.4(AFF4):c.3129G>T (p.Ser1043=) rs531149803
NM_014423.4(AFF4):c.3144-17C>T
NM_014423.4(AFF4):c.3207T>C (p.Tyr1069=) rs1760039116
NM_014423.4(AFF4):c.3210A>T (p.Ser1070=)
NM_014423.4(AFF4):c.3312C>G (p.Leu1104=) rs375501684
NM_014423.4(AFF4):c.3364+19A>G rs1684636321
NM_014423.4(AFF4):c.3365-17T>A
NM_014423.4(AFF4):c.3365-17T>C
NM_014423.4(AFF4):c.3414A>G (p.Ala1138=)
NM_014423.4(AFF4):c.3432A>T (p.Leu1144=)
NM_014423.4(AFF4):c.3450G>A (p.Gln1150=) rs1581264701
NM_014423.4(AFF4):c.3480G>A (p.Lys1160=)
NM_014423.4(AFF4):c.387T>C (p.Ser129=)
NM_014423.4(AFF4):c.435C>T (p.Asn145=)
NM_014423.4(AFF4):c.453C>T (p.His151=)
NM_014423.4(AFF4):c.465A>C (p.Ser155=)
NM_014423.4(AFF4):c.468T>C (p.Tyr156=)
NM_014423.4(AFF4):c.498A>G (p.Lys166=)
NM_014423.4(AFF4):c.521C>G (p.Ser174Cys)
NM_014423.4(AFF4):c.673C>G (p.Arg225Gly) rs141402018
NM_014423.4(AFF4):c.690T>C (p.Ser230=)
NM_014423.4(AFF4):c.72C>T (p.Gly24=)
NM_014423.4(AFF4):c.762T>C (p.Thr254=)
NM_014423.4(AFF4):c.918+19G>T
NM_014423.4(AFF4):c.919-12T>G rs2150096739
NM_014423.4(AFF4):c.919-4C>G
NM_014423.4(AFF4):c.963+10_963+11inv
NM_014423.4(AFF4):c.963+20T>A
NM_014423.4(AFF4):c.964-18G>A
NM_014423.4(AFF4):c.987C>T (p.Pro329=)

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