ClinVar Miner

List of variants in gene ASCC1 reported as pathogenic for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter) rs183415577 0.00006
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) rs866050664 0.00002
NM_001198800.3(ASCC1):c.311-2A>G rs1281256224 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001198800.3(ASCC1):c.626+1G>A rs747595523 0.00001
NM_001198800.3(ASCC1):c.871+1G>A rs763845791 0.00001
NC_000010.10:g.(?_73970434)_(73973122_?)del
NC_000010.11:g.72138925_72163147del
NG_031890.1:g.(?_60461)_(94053_?)del
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) rs753324947
NM_001198800.3(ASCC1):c.349C>T (p.Arg117Ter) rs746994660
NM_001198800.3(ASCC1):c.464_465del (p.Glu155fs)
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter) rs778054296
NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter) rs1389098934

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