ClinVar Miner

List of variants studied for arthrogryposis syndrome by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.1528-1G>A rs1555648288 0.00001
NC_000023.11:g.64951692_65166933del
NM_001378183.1(PIEZO2):c.5257-1G>A rs1555630216
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_018684.4(ZC4H2):c.53+10513C>T rs1931569117
Single allele

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