ClinVar Miner

List of variants in gene WHRN reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.1817del (p.Asp606fs)
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) rs137852839
NM_015404.4(WHRN):c.2423del (p.Gly808fs) rs869320674
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) rs776268964
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) rs137852840
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter)
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) rs1306987034
NM_015404.4(WHRN):c.737del (p.Pro246fs) rs1589229634
NM_015404.4(WHRN):c.837+1G>A rs2133130286
NM_015404.4(WHRN):c.856dup (p.Asp286fs) rs1064794551

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