ClinVar Miner

List of variants reported as likely benign for Brachydactyly

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.-58C>T rs186760637 0.00781
NM_001203.3(BMPR1B):c.*9G>C rs112333283 0.00314
NM_001203.3(BMPR1B):c.*413G>A rs188703962 0.00198
NM_001203.3(BMPR1B):c.*2433A>G rs139936115 0.00143
NM_001203.3(BMPR1B):c.*3101A>G rs556715070 0.00100
NM_001203.3(BMPR1B):c.*1013C>T rs191551226 0.00020
NM_001203.3(BMPR1B):c.150C>T (p.Asp50=) rs147320212 0.00009
NM_001203.3(BMPR1B):c.-18+1G>T rs761522559 0.00006
NM_004560.4(ROR2):c.*766T>C rs548573232 0.00006
NM_001203.3(BMPR1B):c.395T>G (p.Val132Gly) rs150002205 0.00004
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser) rs200198618 0.00001
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386

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