ClinVar Miner

List of variants studied for Sitosterolemia by Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) rs558993616 0.00001
NM_022436.3(ABCG5):c.1650-2A>T
NM_022437.3(ABCG8):c.1226A>C (p.Asn409Thr)

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