ClinVar Miner

List of variants reported as likely pathogenic for Beaulieu-Boycott-Innes syndrome

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Total variants: 7
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NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter)
NM_024339.5(THOC6):c.139C>T (p.Gln47Ter) rs578012528
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121
NM_024339.5(THOC6):c.299G>A (p.Trp100Ter) rs1567415595
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926

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