List of variants in gene TRAPPC11 reported as likely pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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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.1192C>T (p.Arg398Ter)	rs140403642	0.00003
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter)	rs569565392	0.00001
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.1287+1G>C
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
NM_021942.6(TRAPPC11):c.1366+1G>A
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter)	rs1735877322
NM_021942.6(TRAPPC11):c.1568-1G>A	rs1180079162
NM_021942.6(TRAPPC11):c.204+1G>C	rs1734714805
NM_021942.6(TRAPPC11):c.2694+1G>T	rs1186858080
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
NM_021942.6(TRAPPC11):c.2852-1G>T
NM_021942.6(TRAPPC11):c.2964-2A>G
NM_021942.6(TRAPPC11):c.3379_3380insT (p.Asp1127fs)
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.518_521del (p.Phe173fs)	rs771717941
NM_021942.6(TRAPPC11):c.735-2A>G	rs1554007706
NM_021942.6(TRAPPC11):c.957_960dup (p.Lys321delinsValTer)
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter)	rs1483190866
NM_021942.6(TRAPPC11):c.965+1G>A

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