ClinVar Miner

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

Included ClinVar conditions (1):

Smith-McCort dysplasia 2

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)	rs587776958
NM_031296.3(RAB33B):c.186del (p.Glu63fs)	rs1561002040
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)	rs1085307129

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