ClinVar Miner

List of variants studied for arthrogryposis syndrome by Pediatric Genomics Discovery Program, Yale University

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) rs147954907 0.00006
NM_181789.4(GLDN):c.1093C>T (p.Leu365Phe) rs376573993 0.00001

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