List of variants in gene RAB33B reported as pathogenic for Smith-McCort dysplasia 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_031296.3(RAB33B):c.280C>T (p.Arg94Ter)	rs1187861686	0.00001
NM_031296.3(RAB33B):c.136A>C (p.Lys46Gln)	rs587776958
NM_031296.3(RAB33B):c.144C>A (p.Cys48Ter)	rs2111067418
NM_031296.3(RAB33B):c.253C>T (p.Gln85Ter)	rs2111087458
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser)	rs1085307129
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter)	rs1750416123
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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