ClinVar Miner

List of variants studied for brachydactyly type A2 by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro) rs28936683 0.00001
NC_000020.11:g.6879489_6885384dup
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp) rs121434418
NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln) rs121434419
NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys) rs121434417

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