ClinVar Miner

List of variants reported as pathogenic for Brachydactyly type B1 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs) rs863223290
NM_004560.4(ROR2):c.1366dup (p.Leu456fs) rs1587657302
NM_004560.4(ROR2):c.2244del (p.Trp749fs) rs863223292
NM_004560.4(ROR2):c.2246G>A (p.Trp749Ter) rs104894122
NM_004560.4(ROR2):c.2247G>A (p.Trp749Ter) rs104894121
NM_004560.4(ROR2):c.2249del (p.Gly750fs) rs863223289
NM_004560.4(ROR2):c.2265C>A (p.Tyr755Ter) rs121909082

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