ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_182914.2(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.2(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.2(SYNE2):c.12609+1G>T rs745516407
NM_182914.2(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398
NM_182914.2(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.2(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.2(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211

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