ClinVar Miner

List of variants reported as likely benign for Joubert syndrome by Counsyl

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001165927.1(MKS1):c.1558+12C>G rs762501967
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=) rs772719574
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.741G>A (p.Lys247=) rs886038632
NM_001173990.3(TMEM216):c.34+18_34+21del rs940443692

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