ClinVar Miner

List of variants in gene WDR19 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
GRCh37/hg19 4p14(chr4:39215680-39219295)
NM_025132.4(WDR19):c.1034T>G (p.Val345Gly) rs387906983
NM_025132.4(WDR19):c.1080del (p.Ile361fs) rs1553907440
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349
NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg) rs1215108056
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519
NM_025132.4(WDR19):c.203T>A (p.Val68Asp) rs786204852
NM_025132.4(WDR19):c.20T>C (p.Leu7Pro) rs387906982
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980
NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter) rs772599282
NM_025132.4(WDR19):c.3068dup (p.Tyr1023Ter) rs786205114
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) rs387906981
NM_025132.4(WDR19):c.3484-2A>C rs1553918403
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_025132.4(WDR19):c.3565+1G>A rs587777352
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351
NM_025132.4(WDR19):c.3716+1G>A rs1191056931
NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr) rs745603321
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_025132.4(WDR19):c.407-2A>G rs374400438
NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) rs1451698951
NM_025132.4(WDR19):c.641dup (p.Leu214fs) rs587777348
NM_025132.4(WDR19):c.682C>T (p.Gln228Ter) rs587777350
NM_025132.4(WDR19):c.746T>C (p.Phe249Ser) rs1553905326
NM_025132.4(WDR19):c.781dup (p.Thr261fs) rs748656635
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378
NM_025132.4(WDR19):c.880G>A (p.Gly294Arg) rs377160857

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