ClinVar Miner

List of variants studied for autosomal dominant Emery-Dreifuss muscular dystrophy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.3(SYNE2):c.12609+1G>T rs745516407
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309

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