ClinVar Miner

List of variants in gene combination LOC126807238, TRAPPC11 reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_021942.6(TRAPPC11):c.2388A>C (p.Gly796=) rs151021715 0.00089
NM_021942.6(TRAPPC11):c.2287C>T (p.Pro763Ser) rs201179987 0.00039
NM_021942.6(TRAPPC11):c.2418C>T (p.His806=) rs146402163 0.00029
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00026
NM_021942.6(TRAPPC11):c.2286C>T (p.Pro762=) rs372771070 0.00019
NM_021942.6(TRAPPC11):c.2387-8T>C rs192208221 0.00016
NM_021942.6(TRAPPC11):c.2490C>T (p.Asp830=) rs1020680380 0.00003
NM_021942.6(TRAPPC11):c.2508+15C>T rs760883921 0.00002
NM_021942.6(TRAPPC11):c.2508+20A>T rs749812081 0.00002
NM_021942.6(TRAPPC11):c.2355A>G (p.Arg785=) rs1231518300 0.00001
NM_021942.6(TRAPPC11):c.2387-11A>G rs925500234 0.00001
NM_021942.6(TRAPPC11):c.2387-16A>G rs754594713 0.00001
NM_021942.6(TRAPPC11):c.2387-6T>C rs991065648 0.00001
NM_021942.6(TRAPPC11):c.2460G>A (p.Pro820=) rs1216064886 0.00001
NM_021942.6(TRAPPC11):c.2238-16A>G
NM_021942.6(TRAPPC11):c.2238-17A>G
NM_021942.6(TRAPPC11):c.2253C>G (p.Val751=)
NM_021942.6(TRAPPC11):c.2253C>T (p.Val751=)
NM_021942.6(TRAPPC11):c.2256A>G (p.Pro752=) rs2111066919
NM_021942.6(TRAPPC11):c.2275C>T (p.Leu759=)
NM_021942.6(TRAPPC11):c.2289T>C (p.Pro763=)
NM_021942.6(TRAPPC11):c.2292A>G (p.Ala764=)
NM_021942.6(TRAPPC11):c.2328T>C (p.Val776=) rs1380950836
NM_021942.6(TRAPPC11):c.2334C>T (p.Ser778=) rs779675396
NM_021942.6(TRAPPC11):c.2346C>A (p.Thr782=) rs746859786
NM_021942.6(TRAPPC11):c.2358T>C (p.Asp786=) rs2111067355
NM_021942.6(TRAPPC11):c.2364G>A (p.Lys788=) rs1736379690
NM_021942.6(TRAPPC11):c.2379A>G (p.Leu793=) rs748042074
NM_021942.6(TRAPPC11):c.2386+12T>A
NM_021942.6(TRAPPC11):c.2386+18dup
NM_021942.6(TRAPPC11):c.2386+7A>G
NM_021942.6(TRAPPC11):c.2388A>G (p.Gly796=)
NM_021942.6(TRAPPC11):c.2499A>G (p.Pro833=)

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