ClinVar Miner

List of variants studied for congenital bilateral absence of vas deferens by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter) rs774488954
NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs) rs879255539
NM_001079858.3(ADGRG2):c.2845del (p.Cys949fs) rs879255538

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