ClinVar Miner

List of variants in gene CAV3, SSUH2 studied for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) rs116840778
NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) rs1008642
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763

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