List of variants in gene SAMD12 studied for Epilepsy, familial adult myoclonic, 1

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: 5

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]
NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]
NM_207506.3(SAMD12):c.13+16544C>A	rs1827958407
NM_207506.3(SAMD12):c.362G>T (p.Arg121Leu)
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4

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