ClinVar Miner

List of variants reported as pathogenic for congenital bilateral aplasia of vas deferens from CFTR mutation by Biology Pathology Center, Lille University Hospital

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001079858.3(ADGRG2):c.1013del (p.Pro338fs) rs1601888330
NM_001079858.3(ADGRG2):c.1460del (p.Gly487fs) rs1601871234
NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter) rs774488954
NM_001079858.3(ADGRG2):c.1731_1839+373del rs1601862802
NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs) rs879255539
NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs) rs1601856142
NM_001079858.3(ADGRG2):c.2473C>T (p.Arg825Ter) rs1016696059
NM_001079858.3(ADGRG2):c.251C>G (p.Ser84Ter) rs1601950543
NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs) rs879255538

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