ClinVar Miner

List of variants studied for spondyloepimetaphyseal dysplasia, Krakow type by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001366686.3(SIK3):c.2315+45C>A rs2075292 0.86688
NM_001366686.3(SIK3):c.1953-11C>T rs11216164 0.22297
NM_001366686.3(SIK3):c.1582-37A>G rs11216169 0.08764
NM_001366686.3(SIK3):c.3551C>G (p.Pro1184Arg) rs12225230

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