ClinVar Miner

List of variants in gene DYM, LOC100129878 studied for Smith-McCort dysplasia 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_017653.5(DYM):c.*123G>A rs886053843
NM_017653.5(DYM):c.*12T>C rs45452499
NM_017653.5(DYM):c.*22G>A rs113500346
NM_017653.5(DYM):c.1888G>A (p.Val630Met) rs757286463
NM_017653.5(DYM):c.1999G>T (p.Asp667Tyr) rs528865224

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