ClinVar Miner

List of variants reported as pathogenic for Smith-McCort dysplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001353215.2(DYM):c.1729-21351T>C rs120074165
NM_017653.5(DYM):c.259G>A (p.Glu87Lys) rs120074164
NM_017653.5(DYM):c.621-2A>G rs775414124

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