ClinVar Miner

List of variants in gene CAMK2A studied for non-syndromic intellectual disability

Included ClinVar conditions (165):
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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
NM_015981.4(CAMK2A):c.1142+13G>A
NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter)
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr) rs1554119274
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_015981.4(CAMK2A):c.235A>G (p.Ile79Val)
NM_015981.4(CAMK2A):c.270C>T (p.Asp90=) rs1464070393
NM_015981.4(CAMK2A):c.271C>T (p.Leu91=)
NM_015981.4(CAMK2A):c.290T>C (p.Leu97Pro)
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.329C>T (p.Ala110Val) rs779607303
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala) rs2150280830
NM_015981.4(CAMK2A):c.545C>T (p.Pro182Leu)
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val) rs1554122129
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp) rs2150315525
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.712G>C (p.Asp238His) rs1325334771
NM_015981.4(CAMK2A):c.74C>T (p.Ser25Leu)
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del) rs2150279502
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=) rs2150279471
NM_015981.4(CAMK2A):c.817-1G>A rs1554121878
NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg) rs1554121875
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro) rs1554121872
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)

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