ClinVar Miner

List of variants in gene MARCHF6 studied for benign adult familial myoclonic epilepsy

Included ClinVar conditions (6):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
NM_005885.4(MARCHF6):c.674A>G (p.Gln225Arg)
NM_005885.4(MARCHF6):c.914-8C>G	rs2126759091

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