ClinVar Miner

List of variants studied for autosomal recessive multiple pterygium syndrome by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203

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