ClinVar Miner

List of variants in gene EHMT1 studied for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.1237G>A (p.Glu413Lys) rs1949039443
NM_024757.5(EHMT1):c.1474A>G (p.Lys492Glu) rs2136274679
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024757.5(EHMT1):c.2649C>A (p.Tyr883Ter) rs1953425077
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.325G>C (p.Val109Leu) rs199703555
NM_024757.5(EHMT1):c.3455_3458del (p.Val1152fs) rs1955015534
NM_024757.5(EHMT1):c.380T>G (p.Leu127Ter) rs1945375812
NM_024757.5(EHMT1):c.49C>A (p.Gln17Lys) rs1944657576

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