ClinVar Miner

List of variants reported as likely benign for Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly

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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_020779.4(WDR35):c.3121+3G>A rs200042577 0.00199
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618 0.00168
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688 0.00145
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg) rs138007924 0.00097
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00072
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) rs138076014 0.00047
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_020779.4(WDR35):c.681T>C (p.Leu227=) rs143901897 0.00030
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=) rs142103808 0.00017
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00014
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro) rs199882056 0.00009
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly) rs139543775 0.00009
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00008
NM_020779.4(WDR35):c.2847A>G (p.Lys949=) rs373983961 0.00007
NM_020779.4(WDR35):c.1098T>C (p.Asn366=) rs780105362 0.00006
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala) rs759587265 0.00006
NM_020779.4(WDR35):c.657C>T (p.Tyr219=) rs768183424 0.00006
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2659-19G>A rs749563049 0.00005
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.143-4T>C rs1180620404 0.00004
NM_020779.4(WDR35):c.2592A>G (p.Ala864=) rs750654551 0.00004
NM_020779.4(WDR35):c.2877C>G (p.Leu959=) rs139447814 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.1113A>G (p.Lys371=) rs778831561 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.2326C>T (p.Leu776=) rs772138388 0.00003
NM_020779.4(WDR35):c.3363-15C>T rs763500770 0.00003
NM_020779.4(WDR35):c.1410T>C (p.His470=) rs1257210913 0.00002
NM_020779.4(WDR35):c.2643C>T (p.Cys881=) rs776211441 0.00002
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=) rs1295936600 0.00002
NM_020779.4(WDR35):c.339A>G (p.Arg113=) rs750227579 0.00002
NM_020779.4(WDR35):c.1009-18T>A rs113816809 0.00001
NM_020779.4(WDR35):c.135G>A (p.Thr45=) rs773319707 0.00001
NM_020779.4(WDR35):c.1374A>G (p.Thr458=) rs778066578 0.00001
NM_020779.4(WDR35):c.1446G>A (p.Val482=) rs569920075 0.00001
NM_020779.4(WDR35):c.1662A>T (p.Gly554=) rs767878828 0.00001
NM_020779.4(WDR35):c.2157T>C (p.Phe719=) rs755951192 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.24+9C>T rs754703472 0.00001
NM_020779.4(WDR35):c.2691T>C (p.His897=) rs1192258496 0.00001
NM_020779.4(WDR35):c.2739A>G (p.Leu913=) rs774699751 0.00001
NM_020779.4(WDR35):c.3195C>T (p.Cys1065=) rs375805945 0.00001
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=) rs748710979 0.00001
NM_020779.4(WDR35):c.3363-9G>A rs375053867 0.00001
NM_020779.4(WDR35):c.378C>T (p.Asp126=) rs770081985 0.00001
NM_020779.4(WDR35):c.666T>A (p.Pro222=) rs987346249 0.00001
NM_020779.4(WDR35):c.761T>C (p.Met254Thr) rs547986777 0.00001
NM_020779.4(WDR35):c.1008+10A>C rs2103448400
NM_020779.4(WDR35):c.1008+13A>G
NM_020779.4(WDR35):c.105T>C (p.Asp35=)
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)
NM_020779.4(WDR35):c.1140T>C (p.Thr380=) rs202056608
NM_020779.4(WDR35):c.1194+10T>C rs936831337
NM_020779.4(WDR35):c.1194+11C>T
NM_020779.4(WDR35):c.1194+18T>G
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)
NM_020779.4(WDR35):c.1354T>C (p.Leu452=)
NM_020779.4(WDR35):c.1400+17A>G
NM_020779.4(WDR35):c.1401-11C>A
NM_020779.4(WDR35):c.1401-11C>G
NM_020779.4(WDR35):c.143-7G>A
NM_020779.4(WDR35):c.1471-19A>G rs1671119977
NM_020779.4(WDR35):c.147T>C (p.Asp49=) rs1672416502
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)
NM_020779.4(WDR35):c.1524+11C>T
NM_020779.4(WDR35):c.1525-15A>C rs2103417096
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)
NM_020779.4(WDR35):c.1635-19C>T
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)
NM_020779.4(WDR35):c.1698G>A (p.Thr566=) rs773559585
NM_020779.4(WDR35):c.1732T>C (p.Leu578=)
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)
NM_020779.4(WDR35):c.1846-5T>C rs2103410724
NM_020779.4(WDR35):c.1860C>T (p.Thr620=) rs1572333836
NM_020779.4(WDR35):c.1950T>C (p.Asp650=) rs2103406174
NM_020779.4(WDR35):c.2013A>C (p.Gly671=) rs2103406014
NM_020779.4(WDR35):c.2063+7A>T
NM_020779.4(WDR35):c.2154G>A (p.Lys718=) rs2103405404
NM_020779.4(WDR35):c.2178A>G (p.Leu726=)
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)
NM_020779.4(WDR35):c.2202T>C (p.Ala734=)
NM_020779.4(WDR35):c.2247G>T (p.Thr749=)
NM_020779.4(WDR35):c.2253C>T (p.Leu751=)
NM_020779.4(WDR35):c.2267+15C>T rs1374046467
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)
NM_020779.4(WDR35):c.2446C>A (p.Arg816=) rs374027943
NM_020779.4(WDR35):c.25-17T>C
NM_020779.4(WDR35):c.2520A>G (p.Ser840=)
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)
NM_020779.4(WDR35):c.2547+13A>C
NM_020779.4(WDR35):c.2547+9T>C
NM_020779.4(WDR35):c.2568C>T (p.Val856=)
NM_020779.4(WDR35):c.2622A>C (p.Pro874=) rs766138190
NM_020779.4(WDR35):c.2646A>G (p.Val882=)
NM_020779.4(WDR35):c.2658+14C>T
NM_020779.4(WDR35):c.2659-13A>T
NM_020779.4(WDR35):c.2760T>A (p.Leu920=) rs1405610639
NM_020779.4(WDR35):c.2838G>A (p.Glu946=)
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)
NM_020779.4(WDR35):c.288T>C (p.Ile96=)
NM_020779.4(WDR35):c.2913T>C (p.His971=) rs561223092
NM_020779.4(WDR35):c.2964+13G>A rs557213514
NM_020779.4(WDR35):c.2964+14T>A
NM_020779.4(WDR35):c.2965-20T>C
NM_020779.4(WDR35):c.2965-5C>T
NM_020779.4(WDR35):c.2994A>G (p.Glu998=) rs2103396034
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)
NM_020779.4(WDR35):c.30C>T (p.Ser10=) rs1672670437
NM_020779.4(WDR35):c.3121+10T>C
NM_020779.4(WDR35):c.3122-16G>C
NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)
NM_020779.4(WDR35):c.333C>T (p.Asn111=)
NM_020779.4(WDR35):c.3363-10C>T
NM_020779.4(WDR35):c.3363-11C>A rs2103377636
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)
NM_020779.4(WDR35):c.436+18C>T
NM_020779.4(WDR35):c.437-15_437-13del
NM_020779.4(WDR35):c.489A>G (p.Thr163=)
NM_020779.4(WDR35):c.498G>A (p.Ala166=)
NM_020779.4(WDR35):c.570+20A>G
NM_020779.4(WDR35):c.570+7_570+10del
NM_020779.4(WDR35):c.571-16A>G
NM_020779.4(WDR35):c.571-3del
NM_020779.4(WDR35):c.732C>T (p.Asp244=)
NM_020779.4(WDR35):c.81G>A (p.Gly27=) rs1303835293
NM_020779.4(WDR35):c.873G>A (p.Pro291=)
NM_020779.4(WDR35):c.882+10T>A
NM_020779.4(WDR35):c.883-12T>G rs1393592663
NM_020779.4(WDR35):c.883-14A>T
NM_020779.4(WDR35):c.90A>G (p.Ala30=)
NM_020779.4(WDR35):c.946C>T (p.Leu316=) rs1671968631

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