ClinVar Miner

List of variants studied for Vertebral hypersegmentation and orofacial anomalies

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005811.5(GDF11):c.916G>A (p.Glu306Lys) rs1444997099 0.00001
NM_005811.5(GDF11):c.1004G>A (p.Arg335His) rs1335516178
NM_005811.5(GDF11):c.303dup (p.Gln102fs) rs2540202961
NM_005811.5(GDF11):c.565C>T (p.Arg189Cys)
NM_005811.5(GDF11):c.893G>A (p.Arg298Gln) rs1878258280

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