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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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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