ClinVar Miner

List of variants studied for Bohring-Opitz syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711
NM_015338.5(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.5(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.5(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401
NM_015338.5(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) rs1600588199
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870

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