ClinVar Miner

List of variants in gene SYNE2 reported as likely benign by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031

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