ClinVar Miner

List of variants reported as likely benign for Naxos disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03129
NM_002230.4(JUP):c.*709G>C rs56339743 0.03106
NM_002230.4(JUP):c.*286C>T rs73983656 0.03095
NM_002230.4(JUP):c.*669C>T rs8074883 0.01524
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01475
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258

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