ClinVar Miner

List of variants reported as benign for autosomal dominant Robinow syndrome

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_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_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_001330311.2(DVL1):c.605+70GT[4] rs145370195
NM_003392.7(WNT5A):c.*1953dup rs78756487
NM_003392.7(WNT5A):c.*4179dup rs56661203
NM_004560.4(ROR2):c.*170AG[1] rs140581955

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