ClinVar Miner

List of variants reported as pathogenic for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NC_000006.11:g.(?_152443551)_(153748051_?)del
NM_033071.3(SYNE1):c.12371del (p.Lys4124fs) rs886042380
NM_033071.3(SYNE1):c.17002C>T (p.Gln5668Ter)
NM_033071.3(SYNE1):c.18469C>T (p.Gln6157Ter) rs910956017
NM_033071.3(SYNE1):c.24008C>G (p.Ser8003Ter)
NM_033071.3(SYNE1):c.4534G>T (p.Glu1512Ter)
NM_033071.3(SYNE1):c.572T>A (p.Leu191Ter)
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104

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