ClinVar Miner

List of variants reported as benign for Smith-McCort dysplasia 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_031296.3(RAB33B):c.*2651C>A rs3088313 0.26120
NM_031296.3(RAB33B):c.-54C>G rs13128486 0.20953
NM_031296.3(RAB33B):c.*1303C>T rs4074940 0.19380
NM_031296.3(RAB33B):c.-36C>T rs182647425 0.00916
NM_031296.3(RAB33B):c.*1077G>A rs115582784 0.00878
NM_031296.3(RAB33B):c.258A>G (p.Leu86=) rs189262252 0.00016

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