ClinVar Miner

List of variants in gene CEP120 studied for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Gene type:
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Total variants: 21
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HGVS dbSNP
NM_153223.3(CEP120):c.1105C>T (p.Pro369Ser) rs61747983
NM_153223.3(CEP120):c.1274C>G (p.Ala425Gly) rs1196167686
NM_153223.3(CEP120):c.1431-10_1431-9delTA rs1491225681
NM_153223.3(CEP120):c.1671G>A (p.Leu557=) rs75289011
NM_153223.3(CEP120):c.1684A>G (p.Thr562Ala)
NM_153223.3(CEP120):c.1831C>G (p.Arg611Gly)
NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) rs114280473
NM_153223.3(CEP120):c.2145T>C (p.Thr715=) rs113911260
NM_153223.3(CEP120):c.2182A>G (p.Ser728Gly) rs61744334
NM_153223.3(CEP120):c.226A>G (p.Lys76Glu)
NM_153223.3(CEP120):c.2323C>T (p.Gln775Ter)
NM_153223.3(CEP120):c.2359-8T>A rs570367630
NM_153223.3(CEP120):c.2647C>T (p.Arg883Cys) rs140306974
NM_153223.3(CEP120):c.278G>A (p.Gly93Asp) rs1554106320
NM_153223.3(CEP120):c.2924T>G (p.Ile975Ser) rs1554098663
NM_153223.3(CEP120):c.362A>G (p.Lys121Arg) rs147273517
NM_153223.3(CEP120):c.402C>T (p.Thr134=) rs143893793
NM_153223.3(CEP120):c.409A>G (p.Lys137Glu)
NM_153223.3(CEP120):c.451C>T (p.Arg151Ter) rs757499322
NM_153223.3(CEP120):c.469G>A (p.Ala157Thr)
NM_153223.3(CEP120):c.595G>C (p.Ala199Pro) rs367600930

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