List of variants in gene combination LOC126807238, TRAPPC11 reported as uncertain significance 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: 31

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HGVS	dbSNP	gnomAD frequency
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)	rs201868142	0.00026
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)	rs139113789	0.00019
NM_021942.6(TRAPPC11):c.2399A>G (p.Asn800Ser)	rs140915279	0.00010
NM_021942.6(TRAPPC11):c.2459C>T (p.Pro820Leu)	rs752479011	0.00004
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val)	rs368432060	0.00002
NM_021942.6(TRAPPC11):c.2270A>G (p.His757Arg)	rs528458079	0.00001
NM_021942.6(TRAPPC11):c.2306T>C (p.Met769Thr)	rs1236250238	0.00001
NM_021942.6(TRAPPC11):c.2312G>A (p.Cys771Tyr)	rs1441521643	0.00001
NM_021942.6(TRAPPC11):c.2458C>T (p.Pro820Ser)	rs767195120	0.00001
NM_021942.6(TRAPPC11):c.2489A>G (p.Asp830Gly)	rs200068440	0.00001
NM_021942.6(TRAPPC11):c.2238-4A>G	rs1736369470
NM_021942.6(TRAPPC11):c.2252T>G (p.Val751Gly)	rs1381726046
NM_021942.6(TRAPPC11):c.2266G>A (p.Val756Ile)
NM_021942.6(TRAPPC11):c.2281G>A (p.Glu761Lys)
NM_021942.6(TRAPPC11):c.2282A>T (p.Glu761Val)	rs1554009994
NM_021942.6(TRAPPC11):c.2284C>A (p.Pro762Thr)	rs1375382372
NM_021942.6(TRAPPC11):c.2307G>T (p.Met769Ile)	rs1554010022
NM_021942.6(TRAPPC11):c.2320G>A (p.Val774Met)
NM_021942.6(TRAPPC11):c.2330A>G (p.Gln777Arg)
NM_021942.6(TRAPPC11):c.2336A>G (p.His779Arg)	rs1466846744
NM_021942.6(TRAPPC11):c.2341A>G (p.Lys781Glu)
NM_021942.6(TRAPPC11):c.2345C>T (p.Thr782Ile)
NM_021942.6(TRAPPC11):c.2371G>A (p.Ala791Thr)
NM_021942.6(TRAPPC11):c.2371G>T (p.Ala791Ser)	rs1302946870
NM_021942.6(TRAPPC11):c.2384C>T (p.Pro795Leu)	rs2111067527
NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)
NM_021942.6(TRAPPC11):c.2399A>T (p.Asn800Ile)
NM_021942.6(TRAPPC11):c.2429A>G (p.His810Arg)	rs1561053683
NM_021942.6(TRAPPC11):c.2449G>A (p.Glu817Lys)	rs2111068368
NM_021942.6(TRAPPC11):c.2490C>G (p.Asp830Glu)	rs1020680380
NM_021942.6(TRAPPC11):c.2508+5A>G	rs1736402062

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