ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.366A>G (p.Pro122=) rs307362 0.99656
NM_001330311.2(DVL1):c.171-99A>G rs307361 0.97351
NM_001330311.2(DVL1):c.1715-602T>C rs307372 0.97350
NM_001330311.2(DVL1):c.-45C>T rs150789461 0.80772
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_003392.7(WNT5A):c.*2711del rs374459457 0.01120
NM_003392.7(WNT5A):c.391+11A>G rs6790979 0.00858
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val) rs145496306 0.00208
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser) rs139708222 0.00055
NM_003392.7(WNT5A):c.522G>T (p.Pro174=) rs559836923 0.00019
NM_003392.7(WNT5A):c.807G>A (p.Lys269=) rs117338660 0.00016
NM_003392.7(WNT5A):c.140+14A>G rs139616809 0.00010
NM_001330311.2(DVL1):c.433C>T (p.Arg145Trp) rs142925511 0.00009
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr) rs572796263 0.00009
NM_001330311.2(DVL1):c.665G>A (p.Arg222Gln) rs143283367 0.00008
NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn) rs763566950 0.00008
NM_003392.7(WNT5A):c.20T>C (p.Ile7Thr) rs554762368 0.00006
NM_004560.4(ROR2):c.*766T>C rs548573232 0.00006
NM_003392.7(WNT5A):c.6+18T>A rs192224802 0.00004
NM_003392.7(WNT5A):c.448A>G (p.Met150Val) rs750679240 0.00003
NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys) rs766388444 0.00003
NM_003392.7(WNT5A):c.684+18C>A rs1264331427 0.00003
NM_003392.7(WNT5A):c.937G>A (p.Glu313Lys) rs369701725 0.00003
NM_003392.7(WNT5A):c.1005C>T (p.Cys335=) rs762576376 0.00002
NM_001330311.2(DVL1):c.1454A>G (p.Asn485Ser) rs780909370 0.00001
NM_001330311.2(DVL1):c.382C>T (p.Arg128Cys) rs762913745 0.00001
NM_003392.7(WNT5A):c.115G>C (p.Val39Leu) rs1369701937 0.00001
NM_003392.7(WNT5A):c.291G>A (p.Ala97=) rs762941459 0.00001
NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser) rs1393089710 0.00001
NM_003392.7(WNT5A):c.554A>G (p.Asn185Ser) rs771010789 0.00001
NM_001330311.2(DVL1):c.118C>G (p.Arg40Gly)
NM_001330311.2(DVL1):c.1398G>T (p.Glu466Asp) rs2100718483
NM_001330311.2(DVL1):c.1547del (p.Thr516fs) rs1569684523
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs) rs1553173420
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) rs797044834
NM_001330311.2(DVL1):c.1583del (p.Pro528fs) rs797044836
NM_001330311.2(DVL1):c.1594del (p.Trp532fs) rs797044835
NM_001330311.2(DVL1):c.1598del (p.Pro533fs) rs869025220
NM_001330311.2(DVL1):c.1604del (p.Gly535fs) rs797044838
NM_001330311.2(DVL1):c.1631del (p.Gly544fs) rs1643645439
NM_001330311.2(DVL1):c.1637del (p.Pro546fs) rs797044839
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs) rs797044840
NM_001330311.2(DVL1):c.1667del (p.Pro556fs) rs2100714986
NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) rs1643642110
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs) rs1553173368
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_001330311.2(DVL1):c.1698del (p.Ser567fs) rs1553173367
NM_001330311.2(DVL1):c.1715-1G>A rs2100704859
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962
NM_001330311.2(DVL1):c.2005G>T (p.Val669Phe) rs374440563
NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa) rs1643562079
NM_001330311.2(DVL1):c.347G>A (p.Arg116Gln)
NM_001330311.2(DVL1):c.363-1G>C
NM_001330311.2(DVL1):c.499C>T (p.Arg167Ter) rs775845636
NM_001330311.2(DVL1):c.605+70GT[4] rs145370195
NM_001330311.2(DVL1):c.691G>C (p.Ala231Pro) rs2100735835
NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe) rs113333411
NM_001330311.2(DVL1):c.860G>A (p.Gly287Glu)
NM_001330311.2(DVL1):c.863C>T (p.Ala288Val) rs1643737262
NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter) rs1555657045
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) rs1223920489
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) rs1555657073
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val) rs1555657074
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) rs2144572390
NM_001822.7(CHN1):c.1106T>G (p.Ile369Ser) rs1684730153
NM_003392.6(WNT5A):c.-394_-392delCCA rs886058749
NM_003392.7(WNT5A):c.*1428TA[6] rs374828022
NM_003392.7(WNT5A):c.*1428TA[8] rs374828022
NM_003392.7(WNT5A):c.*1444TA[5] rs886058741
NM_003392.7(WNT5A):c.*1452AATATA[4] rs538418882
NM_003392.7(WNT5A):c.*1952_*1953del rs78756487
NM_003392.7(WNT5A):c.*1952_*1953dup rs78756487
NM_003392.7(WNT5A):c.*1953dup rs78756487
NM_003392.7(WNT5A):c.*2711_*2713del rs760058727
NM_003392.7(WNT5A):c.*2728_*2730del rs886058738
NM_003392.7(WNT5A):c.*2728del rs142609857
NM_003392.7(WNT5A):c.*2731dup rs886058737
NM_003392.7(WNT5A):c.*3932CT[3] rs886058733
NM_003392.7(WNT5A):c.*4179dup rs56661203
NM_003392.7(WNT5A):c.-6C>A rs372156419
NM_003392.7(WNT5A):c.141-8C>G rs188798140
NM_003392.7(WNT5A):c.141-9C>G rs181894008
NM_003392.7(WNT5A):c.141-9C>T rs181894008
NM_003392.7(WNT5A):c.157A>T (p.Asn53Tyr)
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003392.7(WNT5A):c.206G>T (p.Cys69Phe) rs786204837
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) rs2106946273
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) rs786200925
NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser) rs786200925
NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys) rs786204836
NM_003392.7(WNT5A):c.290C>T (p.Ala97Val) rs2051414784
NM_003392.7(WNT5A):c.41del (p.Leu14fs) rs2106955417
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys) rs1553677971
NM_003392.7(WNT5A):c.487G>C (p.Gly163Arg) rs587784562
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup) rs1553677967
NM_003392.7(WNT5A):c.544T>C (p.Cys182Arg) rs387906663
NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser) rs869312850
NM_003392.7(WNT5A):c.685A>G (p.Thr229Ala) rs886058744
NM_003392.7(WNT5A):c.890A>G (p.Gln297Arg)
NM_004423.4(DVL3):c.1120G>A (p.Ala374Thr) rs1714612048
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter) rs2109022762
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1592del (p.Pro531fs) rs1577052471
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-1G>C rs869025217
NM_004423.4(DVL3):c.1715-2A>C rs869025216
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1715-2del rs2109023862
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1738C>T (p.Arg580Cys)
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219
NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs) rs1577052785
NM_004423.4(DVL3):c.1949_1950del (p.His650fs)
NM_004423.4(DVL3):c.292del (p.Glu98fs)
NM_004423.4(DVL3):c.706A>G (p.Ser236Gly) rs1714548192
NM_004423.4(DVL3):c.950G>A (p.Arg317Gln)
NM_004560.4(ROR2):c.*170AG[1] rs140581955

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