ClinVar Miner

List of variants in gene MICAL1 studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022765.4(MICAL1):c.1599G>A (p.Leu533=) rs142979809 0.00219
NM_022765.4(MICAL1):c.-43-1G>A rs2115340270
NM_022765.4(MICAL1):c.1021G>A (p.Ala341Thr) rs1775493179
NM_022765.4(MICAL1):c.2044del (p.Pro681_Leu682insTer) rs553320791
NM_022765.4(MICAL1):c.2462T>C (p.Leu821Pro) rs755137933
NM_022765.4(MICAL1):c.763G>T (p.Val255Leu)

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