ClinVar Miner

List of variants in gene ACER3 studied for alkaline ceramidase 3 deficiency

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018367.7(ACER3):c.475C>T (p.Arg159Ter) rs782329790 0.00001
NM_018367.7(ACER3):c.587G>A (p.Cys196Tyr) rs782435086 0.00001
NM_018367.7(ACER3):c.238T>C (p.Phe80Leu) rs2135037657
NM_018367.7(ACER3):c.292T>C (p.Tyr98His) rs1948442632
NM_018367.7(ACER3):c.53T>C (p.Leu18Pro) rs1944923735
NM_018367.7(ACER3):c.566G>A (p.Trp189Ter) rs1949342923
NM_018367.7(ACER3):c.607C>T (p.Arg203Ter) rs782709009
NM_018367.7(ACER3):c.631G>T (p.Gly211Cys)
NM_018367.7(ACER3):c.98A>G (p.Glu33Gly) rs1554988032

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