ClinVar Miner

List of variants studied for sitosterolemia 2 by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00010
NM_022436.3(ABCG5):c.1762+1G>A rs754944896 0.00001

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