ClinVar Miner

List of variants in gene TRAPPC11 reported as benign for autosomal recessive limb-girdle muscular dystrophy type R18

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_021942.6(TRAPPC11):c.2851+29C>G rs12651215 0.58778
NM_021942.6(TRAPPC11):c.927A>G (p.Ala309=) rs4241779 0.49989
NM_021942.6(TRAPPC11):c.2851+46G>A rs62358033 0.26555
NM_021942.6(TRAPPC11):c.2799G>C (p.Gln933His) rs62617790 0.09786
NM_021942.6(TRAPPC11):c.1978G>C (p.Val660Leu) rs67383011 0.08451
NM_021942.6(TRAPPC11):c.897C>A (p.Ile299=) rs62357990 0.06250
NM_021942.6(TRAPPC11):c.675G>A (p.Arg225=) rs73872657 0.01657
NM_021942.6(TRAPPC11):c.660+18A>G rs116374103 0.00959
NM_021942.6(TRAPPC11):c.832-9A>G rs114748616 0.00958
NM_021942.6(TRAPPC11):c.1422-3G>A rs73872662 0.00921
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=) rs60142264 0.00766
NM_021942.6(TRAPPC11):c.3310A>G (p.Thr1104Ala) rs78663235 0.00474
NM_021942.6(TRAPPC11):c.1366+17G>A rs146949379 0.00445
NM_021942.6(TRAPPC11):c.3273A>G (p.Pro1091=) rs113269326 0.00249
NM_021942.6(TRAPPC11):c.204+17G>A rs200658266 0.00179
NM_021942.6(TRAPPC11):c.3019G>A (p.Val1007Met) rs79804817 0.00168
NM_021942.6(TRAPPC11):c.1287+10G>A rs190478555 0.00098
NM_021942.6(TRAPPC11):c.734+17A>G rs376472233 0.00063
NM_021942.6(TRAPPC11):c.117C>G (p.Ala39=) rs145842147 0.00056
NM_021942.6(TRAPPC11):c.219G>C (p.Glu73Asp) rs138760818 0.00055
NM_021942.6(TRAPPC11):c.3092C>G (p.Pro1031Arg) rs200466260 0.00041
NM_021942.6(TRAPPC11):c.2169C>G (p.Phe723Leu) rs146441514 0.00033
NM_021942.6(TRAPPC11):c.561-11G>A rs188054761 0.00008
NM_021942.6(TRAPPC11):c.3329G>A (p.Arg1110His) rs369105119 0.00003
NM_021942.6(TRAPPC11):c.2050-18C>T rs568036269 0.00002
NM_021942.6(TRAPPC11):c.1503G>A (p.Lys501=) rs530411873
NM_021942.6(TRAPPC11):c.1894-17del
NM_021942.6(TRAPPC11):c.2628+10dup rs150593522
NM_021942.6(TRAPPC11):c.2851+42GC[2] rs147708886
NM_021942.6(TRAPPC11):c.661-13del rs751852398
NM_021942.6(TRAPPC11):c.661-3del rs140871779

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