ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000006.12:g.(?_152122416)_(153426916_?)del
NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822

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