List of variants studied for Muscular dystrophy, limb-girdle, autosomal recessive 23 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp)	rs139824017	0.00012
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter)	rs191912891	0.00011
NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile)	rs182958473	0.00005
NM_000426.4(LAMA2):c.5562+1G>A	rs376014152	0.00005
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	rs121913572	0.00004
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	rs747349942	0.00003
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter)	rs758775001	0.00002
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr)	rs2482291953
NM_000426.4(LAMA2):c.2749+4_2749+15del	rs2482293091
NM_000426.4(LAMA2):c.2987G>A (p.Cys996Tyr)
NM_000426.4(LAMA2):c.29T>A (p.Leu10His)	rs2482366909
NM_000426.4(LAMA2):c.3924+1G>A	rs2482417853
NM_000426.4(LAMA2):c.5866-1G>A	rs1064797040

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