ClinVar Miner

List of variants reported as pathogenic for Smith-McCort dysplasia 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln) rs587776958
NM_031296.3(RAB33B):c.211C>T (p.Arg71Ter) rs1085307128
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031296.3(RAB33B):c.444T>A (p.Asn148Lys) rs886044716
NM_031296.3(RAB33B):c.48_55del (p.Gly17fs) rs1085307130
NM_031296.3(RAB33B):c.490C>T (p.Gln164Ter) rs1085307131

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