ClinVar Miner

List of variants studied for brachydactyly type C by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
GDF5, 23-BP INS, NT811
NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter) rs121909348
NM_000557.5(GDF5):c.205dup (p.Ala69fs) rs753691079
NM_000557.5(GDF5):c.517A>G (p.Met173Val) rs28936397
NM_000557.5(GDF5):c.901C>T (p.Arg301Ter) rs74315386

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