List of variants reported as benign for Eichsfeld type congenital muscular dystrophy

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)	rs7349185	0.78899
NM_020451.3(SELENON):c.1173T>C (p.Pro391=)	rs760597	0.73933
NM_020451.3(SELENON):c.1093-46C>A	rs760598	0.68499
NM_020451.3(SELENON):c.1282-41C>T	rs10902685	0.64052
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)	rs2294228	0.64022
NM_020451.3(SELENON):c.981C>T (p.Arg327=)	rs147587542	0.02788
NM_020451.3(SELENON):c.1745G>A (p.Arg582Gln)	rs74060854	0.02376
NM_020451.3(SELENON):c.42C>T (p.Pro14=)	rs187960531	0.02295
NM_020451.3(SELENON):c.1387+11C>T	rs59653066	0.01839
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala)	rs35019869	0.01231
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)	rs115852080	0.01060
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	rs147131452	0.00268
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)	rs199742668	0.00240
NM_020451.3(SELENON):c.846C>T (p.Ser282=)	rs34177164	0.00175
NM_020451.3(SELENON):c.852C>T (p.Phe284=)	rs187880136	0.00141
NM_020451.3(SELENON):c.729G>A (p.Pro243=)	rs139020143	0.00131
NM_020451.3(SELENON):c.1602+14C>T	rs41284307	0.00120
NM_020451.3(SELENON):c.1596C>T (p.Gly532=)	rs149623434	0.00085
NM_020451.3(SELENON):c.1282-10G>A	rs556910756	0.00060
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)	rs200128474	0.00036
NM_020451.3(SELENON):c.1092+16G>C	rs199937216	0.00028
NM_020451.3(SELENON):c.1110G>A (p.Thr370=)	rs779080942	0.00004
NM_020451.3(SELENON):c.1455C>T (p.Ser485=)	rs575407217	0.00004
NM_020451.3(SELENON):c.1162A>G (p.Ser388Gly)	rs562843129	0.00001
NM_020451.3(SELENON):c.882C>T (p.Ala294=)	rs201631363	0.00001
NM_020451.3(SELENON):c.1092+6C>G	rs148071754
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup)	rs141295085
NM_020451.3(SELENON):c.580G>C (p.Ala194Pro)	rs560203077

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