ClinVar Miner

List of variants reported as uncertain significance for Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile) rs148348158 0.00029
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys) rs760085736 0.00001
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys) rs1212671249 0.00001
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) rs750610809 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del) rs778590557
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu) rs776363221

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