List of variants reported as benign for Muscular dystrophy-dystroglycanopathy type B6 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)	rs86487	0.39804
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)	rs17722172	0.04733
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)	rs34292743	0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)	rs36002910	0.02334
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)	rs11913417	0.02196
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)	rs59349720	0.01920
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)	rs73399520	0.01853
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)	rs63446460	0.01465
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)	rs8142483	0.00887
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)	rs1046166	0.00617
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)	rs34642406	0.00430
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)	rs74550830	0.00224
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)	rs145048151	0.00220
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)	rs113253213	0.00174
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)	rs115076367	0.00140
NM_133642.5(LARGE1):c.408+8G>A	rs141818070	0.00103
NM_133642.5(LARGE1):c.893-17C>G	rs139572378	0.00102
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)	rs146552975	0.00092
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=)	rs116734942	0.00081
NM_133642.5(LARGE1):c.1878-11G>T	rs200819807	0.00025
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)	rs12627793	0.00012
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)	rs398124184	0.00001
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)	rs576967464
NM_133642.5(LARGE1):c.2073+12G>A	rs377566674
NM_133642.5(LARGE1):c.897G>C (p.Val299=)	rs532067255
NM_133642.5(LARGE1):c.924G>A (p.Arg308=)	rs528836583

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