List of variants studied for Sitosterolemia 1 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00022
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	rs137852991	0.00013
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	rs137852989	0.00008
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)	rs137852990	0.00006
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)	rs137854891	0.00002
NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg)	rs137852992	0.00001
NM_022437.3(ABCG8):c.547del (p.Gln183fs)	rs387906323
NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr)	rs137852993
NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter)	rs1668974150

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