ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance for Hemihypertrophy; Scoliosis; Congenital contracture; Arthrogryposis multiplex congenita; Decreased muscle mass; Short lower limbs; Upper limb undergrowth

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890

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