ClinVar Miner

List of variants studied for arthrogryposis, distal, type 1A by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921 0.00010
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His) rs760777722 0.00001
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943 0.00001
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) rs1567553702

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