List of variants reported as likely pathogenic for Sitosterolemia

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00022
NC_000002.11:g.(?_44047116)_(44053814_?)del
NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)
NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)
NM_022436.3(ABCG5):c.1323_1324+2del	rs780744534
NM_022436.3(ABCG5):c.1324_1324+15del
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp)	rs199984328
NM_022436.3(ABCG5):c.266-2A>G
NM_022436.3(ABCG5):c.403-2A>T
NM_022436.3(ABCG5):c.501+1G>A
NM_022436.3(ABCG5):c.634+1G>A	rs370368811
NM_022436.3(ABCG5):c.634+1G>C	rs370368811
NM_022436.3(ABCG5):c.635-153_1588del
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)	rs143740796
NM_022436.3(ABCG5):c.978del (p.Glu326fs)	rs869025350
NM_022437.3(ABCG8):c.965-1G>A	rs957176669

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