ClinVar Miner

List of variants studied for acromesomelic dysplasia by Baylor Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys) rs758630897 0.00001
NM_003995.4(NPR2):c.3078+16G>T rs760800240 0.00001
NM_000557.5(GDF5):c.358C>T (p.Arg120Trp)
NM_003995.4(NPR2):c.2463G>A (p.Gln821=) rs1828391242

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