List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type R18

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)	rs143990563	0.00064
NM_021942.6(TRAPPC11):c.1287+5G>A	rs397509418	0.00004
NM_021942.6(TRAPPC11):c.2938G>A (p.Gly980Arg)	rs397509417	0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu)	rs764158202	0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A	rs1170374164	0.00001
NM_021942.6(TRAPPC11):c.1113+2T>G	rs2111348918
NM_021942.6(TRAPPC11):c.1207+1G>C	rs1735767573
NM_021942.6(TRAPPC11):c.1366+1G>A
NM_021942.6(TRAPPC11):c.1568-1G>A	rs1180079162
NM_021942.6(TRAPPC11):c.204+1G>C	rs1734714805
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs)	rs2111068286
NM_021942.6(TRAPPC11):c.2694+1G>T	rs1186858080
NM_021942.6(TRAPPC11):c.2852-1G>T
NM_021942.6(TRAPPC11):c.374+1G>A
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu)	rs868721699
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs)	rs759415592
NM_021942.6(TRAPPC11):c.735-2A>G	rs1554007706
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)	rs1483190866
NM_021942.6(TRAPPC11):c.965+1G>A

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