ClinVar Miner

List of variants in gene SYNE1 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys) rs1384400002 0.00001
NM_182961.4(SYNE1):c.17203-5C>A rs886044642
NM_182961.4(SYNE1):c.19958G>C (p.Ser6653Thr) rs1057518825
NM_182961.4(SYNE1):c.20863-5T>G rs2082753195
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly) rs188684213

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