ClinVar Miner

List of variants reported as benign for acromesomelic dysplasia 2C, Hunter-Thompson type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.-48= rs143384 0.56056
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057

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