List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2A by GeneReviews

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)	rs147764579	0.00016
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)	rs80338802	0.00014
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)	rs774048743	0.00001
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)	rs778768583	0.00001
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.1193+6T>A	rs1555421532
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg)	rs2141193741
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)	rs80338803
NM_000070.3(CAPN3):c.2051-1G>T	rs886042108
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)	rs1555423217
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)	rs2053335268
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000070.3(CAPN3):c.946-1G>A	rs80338801

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