ClinVar Miner

List of variants reported as likely benign for arthrogryposis, renal dysfunction, and cholestasis 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.632-14T>C rs142501624 0.00164
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=) rs144120903 0.00023
NM_001193315.2(VIPAS39):c.-1+408G>C
NM_001193315.2(VIPAS39):c.842C>G (p.Pro281Arg)
NM_001193315.2(VIPAS39):c.907A>G (p.Ile303Val)

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