ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
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.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.13828G>C (p.Glu4610Gln) rs1590224228
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676

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