ClinVar Miner

List of variants reported as likely benign for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 259
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HGVS dbSNP
NM_001104631.2(PDE4D):c.*4675G>A rs536451907
NM_001104631.2(PDE4D):c.1197A>G (p.Glu399=) rs369906474
NM_001104631.2(PDE4D):c.1252C>T (p.Arg418Trp)
NM_001104631.2(PDE4D):c.1831-7A>G rs766871489
NM_001104631.2(PDE4D):c.758+11C>A
NM_001104631.2(PDE4D):c.781C>A (p.Pro261Thr)
NM_001361.4(DHODH):c.-29A>G rs34270657
NM_001361.5(DHODH):c.*1088T>C rs567852382
NM_001361.5(DHODH):c.*1174T>G rs148338434
NM_001361.5(DHODH):c.*139C>T rs140263128
NM_001361.5(DHODH):c.*14C>T rs370049658
NM_001361.5(DHODH):c.*252C>T rs147792232
NM_001361.5(DHODH):c.*868A>G
NM_001361.5(DHODH):c.294C>T (p.Asp98=) rs61747639
NM_001361.5(DHODH):c.72C>T (p.Phe24=) rs61753576
NM_001361.5(DHODH):c.765C>T (p.Ile255=)
NM_005850.4(SF3B4):c.-78T>C rs373005050
NM_005850.5(SF3B4):c.-1C>T rs587718470
NM_005850.5(SF3B4):c.-25G>A rs199754113
NM_005850.5(SF3B4):c.-32C>T rs587675943
NM_005850.5(SF3B4):c.519C>T (p.Thr173=) rs143105666
NM_005850.5(SF3B4):c.543C>T (p.Asp181=) rs41265150
NM_005850.5(SF3B4):c.682T>C (p.Leu228=) rs115070660
NM_005850.5(SF3B4):c.707-8C>T rs371485646
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro)
NM_147127.5(EVC2):c.-19T>C rs188508515
NM_147127.5(EVC2):c.1005+3G>A
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395
NM_147127.5(EVC2):c.1260C>G (p.Leu420=)
NM_147127.5(EVC2):c.126C>T (p.Leu42=) rs781009014
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala)
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1620C>T (p.Ile540=)
NM_147127.5(EVC2):c.1677T>C (p.Ala559=)
NM_147127.5(EVC2):c.1755G>A (p.Arg585=)
NM_147127.5(EVC2):c.1806C>G (p.Leu602=)
NM_147127.5(EVC2):c.1854C>G (p.Ala618=)
NM_147127.5(EVC2):c.1869C>T (p.Leu623=)
NM_147127.5(EVC2):c.1886+7C>G
NM_147127.5(EVC2):c.1899G>C (p.Leu633=)
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
NM_147127.5(EVC2):c.2076C>T (p.Ser692=)
NM_147127.5(EVC2):c.2079C>A (p.Val693=)
NM_147127.5(EVC2):c.2137C>T (p.Leu713=)
NM_147127.5(EVC2):c.2160C>G (p.Thr720=)
NM_147127.5(EVC2):c.2193C>T (p.Ala731=)
NM_147127.5(EVC2):c.2202C>T (p.Asp734=)
NM_147127.5(EVC2):c.2247C>T (p.Asp749=)
NM_147127.5(EVC2):c.229-4T>G
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722
NM_147127.5(EVC2):c.2350A>G (p.Met784Val) rs202191109
NM_147127.5(EVC2):c.2397C>T (p.Asp799=)
NM_147127.5(EVC2):c.2451C>T (p.Ala817=)
NM_147127.5(EVC2):c.2517A>G (p.Ser839=) rs756424912
NM_147127.5(EVC2):c.2571C>A (p.Gly857=)
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415
NM_147127.5(EVC2):c.2793C>T (p.Leu931=)
NM_147127.5(EVC2):c.2829+9A>C rs370232376
NM_147127.5(EVC2):c.2832T>C (p.Val944=)
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_147127.5(EVC2):c.2944C>T (p.Leu982=)
NM_147127.5(EVC2):c.2958C>T (p.Thr986=)
NM_147127.5(EVC2):c.297T>G (p.Leu99=)
NM_147127.5(EVC2):c.2995C>T (p.Leu999=)
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=)
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075
NM_147127.5(EVC2):c.3272+7C>T rs201048030
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=) rs138902279
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)
NM_147127.5(EVC2):c.3300C>T (p.Val1100=)
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=)
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=)
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=)
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
NM_147127.5(EVC2):c.354C>G (p.Ala118=) rs915274674
NM_147127.5(EVC2):c.3558-6C>T
NM_147127.5(EVC2):c.3660-10A>G
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=)
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile) rs771435248
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=)
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=)
NM_147127.5(EVC2):c.408G>A (p.Lys136=)
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.531G>A (p.Ser177=)
NM_147127.5(EVC2):c.576C>G (p.Thr192=)
NM_147127.5(EVC2):c.588G>A (p.Ser196=)
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640
NM_147127.5(EVC2):c.669G>A (p.Ser223=)
NM_147127.5(EVC2):c.707-5C>T
NM_147127.5(EVC2):c.759C>T (p.Leu253=)
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327
NM_147127.5(EVC2):c.810G>A (p.Ser270=)
NM_147127.5(EVC2):c.852A>G (p.Thr284=)
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala) rs201083070
NM_147127.5(EVC2):c.894C>T (p.His298=)
NM_147127.5(EVC2):c.903G>T (p.Gly301=)
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930
NM_147127.5(EVC2):c.948C>T (p.Ala316=)
NM_153717.3(EVC):c.*1185A>G rs113728951
NM_153717.3(EVC):c.*1248T>G rs559890176
NM_153717.3(EVC):c.*1374G>C rs549720489
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*1592C>T rs193184679
NM_153717.3(EVC):c.*1648T>C rs371788560
NM_153717.3(EVC):c.*1700C>T rs74690944
NM_153717.3(EVC):c.*1871C>T rs150764469
NM_153717.3(EVC):c.*198G>A rs181401771
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2132A>G rs11939264
NM_153717.3(EVC):c.*2277G>C rs28452978
NM_153717.3(EVC):c.*2285C>G rs145479436
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2361C>T rs570533057
NM_153717.3(EVC):c.*2465C>T rs555611922
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*254G>A rs557237233
NM_153717.3(EVC):c.*2686G>A rs545215581
NM_153717.3(EVC):c.*2708G>A rs79112570
NM_153717.3(EVC):c.*302G>A rs560005309
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*615C>T rs73079505
NM_153717.3(EVC):c.*922G>A rs71599840
NM_153717.3(EVC):c.-35C>A rs546318095
NM_153717.3(EVC):c.-36G>A rs577263762
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1041G>T (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1128G>A (p.Ala376=) rs111234281
NM_153717.3(EVC):c.114C>T (p.Leu38=)
NM_153717.3(EVC):c.1206C>T (p.His402=)
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1350G>A (p.Ala450=)
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611
NM_153717.3(EVC):c.1464+5C>T
NM_153717.3(EVC):c.1482G>A (p.Leu494=)
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1536C>T (p.Ala512=)
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1564-7G>A
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.1692C>T (p.Asn564=)
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1707G>C (p.Leu569=)
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923
NM_153717.3(EVC):c.174+7C>T
NM_153717.3(EVC):c.175-10C>T
NM_153717.3(EVC):c.1776+7G>A
NM_153717.3(EVC):c.1776+7del
NM_153717.3(EVC):c.1777-8G>A
NM_153717.3(EVC):c.1777-9C>T
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230
NM_153717.3(EVC):c.180C>T (p.Asp60=)
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1854C>A (p.Gly618=)
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.1896G>T (p.Arg632=)
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1944G>A (p.Arg648=)
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)
NM_153717.3(EVC):c.2098-10T>C
NM_153717.3(EVC):c.2103G>A (p.Ala701=)
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.225C>T (p.Thr75=)
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2305-6C>T rs781705295
NM_153717.3(EVC):c.2322G>A (p.Ala774=)
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.3(EVC):c.2376G>A (p.Ala792=)
NM_153717.3(EVC):c.2412C>T (p.His804=)
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+10C>T
NM_153717.3(EVC):c.2449+12C>G rs751678723
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2550G>A (p.Ala850=)
NM_153717.3(EVC):c.2562-3C>T rs375960614
NM_153717.3(EVC):c.2562-4C>A
NM_153717.3(EVC):c.2624A>T (p.His875Leu)
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332
NM_153717.3(EVC):c.2757G>T (p.Leu919=)
NM_153717.3(EVC):c.2782+9C>T
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-4T>C
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.312G>A (p.Pro104=)
NM_153717.3(EVC):c.339C>T (p.Phe113=)
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919
NM_153717.3(EVC):c.462G>A (p.Glu154=)
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.3(EVC):c.510C>T (p.Asp170=)
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.534C>A (p.Val178=)
NM_153717.3(EVC):c.549C>T (p.Ser183=) rs201071908
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621
NM_153717.3(EVC):c.717T>A (p.Ile239=)
NM_153717.3(EVC):c.759A>G (p.Ser253=)
NM_153717.3(EVC):c.867T>G (p.Gly289=)
NM_153717.3(EVC):c.882C>T (p.Ile294=)
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.933C>T (p.Ile311=)
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502
NM_212472.2(PRKAR1A):c.*812A>C rs116996069
NM_212472.2(PRKAR1A):c.-6-7C>T rs373646911
NM_212472.2(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504
NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_212472.2(PRKAR1A):c.762T>C (p.Ser254=) rs753621663

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