ClinVar Miner

List of variants studied for autosomal dominant Robinow syndrome by Baylor Genetics

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.665G>A (p.Arg222Gln) rs143283367 0.00008
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_004423.4(DVL3):c.1592del (p.Pro531fs) rs1577052471
NM_004423.4(DVL3):c.950G>A (p.Arg317Gln)

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