ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome by Genome-Nilou Lab

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001330311.2(DVL1):c.366A>G (p.Pro122=) rs307362 0.99656
NM_001330311.2(DVL1):c.171-99A>G rs307361 0.97351
NM_001330311.2(DVL1):c.1715-602T>C rs307372 0.97350
NM_001330311.2(DVL1):c.-45C>T rs150789461 0.80772
NM_001330311.2(DVL1):c.605+70GT[4] rs145370195

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