ClinVar Miner

List of variants reported as benign for Emery-Dreifuss muscular dystrophy 5, autosomal dominant by Genome-Nilou Lab

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.10697+29G>A rs1255964 0.91279
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908 0.91221
NM_182914.3(SYNE2):c.7183G>A (p.Ala2395Thr) rs4027405 0.87610
NM_182914.3(SYNE2):c.6481C>T (p.Leu2161=) rs10151127 0.80823
NM_182914.3(SYNE2):c.7076G>A (p.Ser2359Asn) rs4027404 0.75629
NM_182914.3(SYNE2):c.9757G>C (p.Asp3253His) rs8010911 0.72882
NM_182914.3(SYNE2):c.10213-43A>G rs1255972 0.72793
NM_182914.3(SYNE2):c.6851C>T (p.Ala2284Val) rs4027402 0.72784
NM_182914.3(SYNE2):c.5906T>C (p.Met1969Thr) rs4902264 0.72634
NM_182914.3(SYNE2):c.9744+41G>A rs10138253 0.72582
NM_182914.3(SYNE2):c.8824A>G (p.Ile2942Val) rs3829767 0.71158
NM_182914.3(SYNE2):c.591-45G>A rs1255874 0.67518
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658 0.56664
NM_182914.3(SYNE2):c.18390-48A>G rs1152592 0.51946
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=) rs2256191 0.47326
NM_182914.3(SYNE2):c.12381+43T>C rs9323444 0.39334
NM_182914.3(SYNE2):c.17202C>A (p.Leu5734=) rs7161192 0.33500
NM_182914.3(SYNE2):c.2473-22T>G rs1255908 0.31704
NM_182914.3(SYNE2):c.19857G>T (p.Leu6619=) rs35648226 0.24610
NM_182914.3(SYNE2):c.10697+35T>G rs1392162624 0.00001
NM_182914.3(SYNE2):c.2647-3dup rs397726340
NM_182914.3(SYNE2):c.79+40G>T rs2275018
NM_182914.3(SYNE2):c.9926A>G (p.His3309Arg) rs8010699

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