ClinVar Miner

List of variants studied for Shukla-Vernon syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001379451.1(BCORL1):c.1141G>A (p.Val381Met)
NM_001379451.1(BCORL1):c.4976A>C (p.Gln1659Pro)
NM_001379451.1(BCORL1):c.629C>T (p.Ser210Leu) rs267606346

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