ClinVar Miner

List of variants studied for distal arthrogryposis type 5D by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs) rs1341894581
NM_004826.4(ECEL1):c.1865-3C>G
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)

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