ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.17682+1G>A rs1064796579 0.00003
NM_182961.4(SYNE1):c.24129+2T>C rs544985182 0.00003
NM_182961.4(SYNE1):c.6723+1G>C rs779302145 0.00001
NC_000006.11:g.(?_152466612)_(152643033_?)dup
NC_000006.11:g.(?_152652198)_(152658654_?)del
NC_000006.11:g.(?_152716631)_(152765733_?)dup
NM_182961.4(SYNE1):c.10145+1G>A rs1563391747
NM_182961.4(SYNE1):c.10608+1G>C rs1590998146
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
NM_182961.4(SYNE1):c.12079-2A>T rs2154019221
NM_182961.4(SYNE1):c.12351+2T>C rs2154000325
NM_182961.4(SYNE1):c.15837_15917+69del rs2153937126
NM_182961.4(SYNE1):c.16237-2A>G rs2153903647
NM_182961.4(SYNE1):c.16896+1G>T
NM_182961.4(SYNE1):c.18208-1G>A rs2153725036
NM_182961.4(SYNE1):c.19260+1G>C
NM_182961.4(SYNE1):c.19260+1G>T
NM_182961.4(SYNE1):c.19260+2T>C rs1588855714
NM_182961.4(SYNE1):c.22590-1G>A rs2153409815
NM_182961.4(SYNE1):c.22824+2T>A
NM_182961.4(SYNE1):c.23790+1G>A rs2153025020
NM_182961.4(SYNE1):c.2394+1G>A
NM_182961.4(SYNE1):c.2568+1G>A rs2154261629
NM_182961.4(SYNE1):c.67+2T>A rs762743107
NM_182961.4(SYNE1):c.888+2T>C

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