List of variants reported as benign for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Genome-Nilou Lab

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)	rs2147377	0.99149
NM_182961.4(SYNE1):c.17203-48G>A	rs4112833	0.85656
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)	rs2306916	0.82174
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)	rs6911096	0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)	rs9479297	0.80638
NM_182961.4(SYNE1):c.12352-39A>G	rs9479298	0.80324
NM_182961.4(SYNE1):c.1463+24G>T	rs4523096	0.78969
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)	rs4407724	0.64816
NM_182961.4(SYNE1):c.19471-18C>T	rs6557210	0.64435
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)	rs2256135	0.62211
NM_182961.4(SYNE1):c.11734-5T>G	rs9478320	0.59305
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)	rs9397102	0.57769
NM_182961.4(SYNE1):c.11580+15C>T	rs6908392	0.57402
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)	rs4645434	0.55815
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)	rs214976	0.52364
NM_182961.4(SYNE1):c.3505-39A>C	rs502268	0.51916
NM_182961.4(SYNE1):c.1047+4T>A	rs9397106	0.50379
NM_182961.4(SYNE1):c.9147-13G>A	rs214955	0.49738
NM_182961.4(SYNE1):c.12795-12A>G	rs9478314	0.48867
NM_182961.4(SYNE1):c.8177+20A>T	rs214943	0.48837
NM_182961.4(SYNE1):c.17346+38C>T	rs9371581	0.48251
NM_182961.4(SYNE1):c.7713-49G>A	rs214944	0.47302
NM_182961.4(SYNE1):c.9651+47C>T	rs1873176	0.45478
NM_182961.4(SYNE1):c.7029+45T>C	rs177330	0.43899
NM_182961.4(SYNE1):c.1351-24A>T	rs4331993	0.38135
NM_182961.4(SYNE1):c.130-25C>T	rs2141152	0.26785
NM_182961.4(SYNE1):c.17346+7G>A	rs9383985	0.26223
NM_182961.4(SYNE1):c.17202+24G>A	rs12662994	0.09437
NM_182961.4(SYNE1):c.11254-31T>G	rs6932325
NM_182961.4(SYNE1):c.11581-15dup	rs5880967
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)	rs6913579

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