ClinVar Miner

List of variants in gene WNT5A studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_003392.7(WNT5A):c.*2711del rs374459457 0.01120
NM_003392.7(WNT5A):c.391+11A>G rs6790979 0.00858
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
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_003392.7(WNT5A):c.502G>A (p.Ala168Thr) rs572796263 0.00009
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_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_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_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)

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