ClinVar Miner

List of variants in gene CHRND, CHRNG studied for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_000751.3(CHRND):c.*52A>G rs2767
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.*885T>C rs1004175
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080

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