List of variants in gene combination ABCG5, DYNC2LI1 reported as likely pathogenic for Sitosterolemia

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)	rs375364242	0.00001
NM_022436.3(ABCG5):c.634+1G>C	rs370368811	0.00001
NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys)	rs575266356
NM_022436.3(ABCG5):c.1323_1324+2del	rs780744534
NM_022436.3(ABCG5):c.1324_1324+15del	rs754893727
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp)	rs199984328
NM_022436.3(ABCG5):c.634+1G>A	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

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