ClinVar Miner

List of variants studied for Bohring-Opitz syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401 0.00001
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val) rs2011649912
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) rs1600588199
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600

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