List of variants reported as benign for Congenital myasthenic syndrome 19

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001368882.1(COL13A1):c.685-1181A>G	rs1227746	0.99612
NM_001368882.1(COL13A1):c.744G>A (p.Thr248=)	rs1227747	0.99609
NM_001368882.1(COL13A1):c.258G>A (p.Thr86=)	rs10998973	0.49201
NM_001368882.1(COL13A1):c.463-4G>A	rs2395272	0.21946
NM_001368882.1(COL13A1):c.525A>C (p.Gly175=)	rs11816811	0.10710
NM_001368882.1(COL13A1):c.1330-3C>T	rs80290126	0.04374
NM_001368882.1(COL13A1):c.514-4del	rs35268667
NM_001368882.1(COL13A1):c.984C>G (p.Ala328=)	rs2274181

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