ClinVar Miner

List of variants reported as likely pathogenic for arthrogryposis syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_002470.4(MYH3):c.1504T>G (p.Tyr502Asp) rs797045727
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn) rs797046046
NM_004826.4(ECEL1):c.1209G>T (p.Trp403Cys) rs1553567411
NM_004826.4(ECEL1):c.1797-8G>A rs1553566820

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