ClinVar Miner

List of variants in gene CAMK2A reported as pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015981.4(CAMK2A):c.1237+1G>A rs113331868
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr) rs1554119274
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser) rs1554122526
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp) rs1287121256
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) rs1554122129
NM_015981.4(CAMK2A):c.635C>A (p.Pro212Gln) rs926027867
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu) rs926027867
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu) rs864309606
NM_015981.4(CAMK2A):c.817-1G>A rs1554121878
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) rs1554121875
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) rs1554121872

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