ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type R18 by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_021942.6(TRAPPC11):c.282A>C (p.Pro94=) rs148105529 0.00072
NM_021942.6(TRAPPC11):c.2145A>C (p.Glu715Asp) rs139034513 0.00039
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser) rs148567547 0.00026
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=) rs201868142 0.00026
NM_021942.6(TRAPPC11):c.2530C>A (p.Arg844Ser) rs149626892 0.00025
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) rs142222368 0.00021
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met) rs139113789 0.00019
NM_021942.6(TRAPPC11):c.3086C>T (p.Ser1029Leu) rs201494083 0.00014
NM_021942.6(TRAPPC11):c.1277T>C (p.Val426Ala) rs201263451 0.00009
NM_021942.6(TRAPPC11):c.1766A>G (p.Gln589Arg) rs146053783 0.00009
NM_021942.6(TRAPPC11):c.2756G>A (p.Ser919Asn) rs753388968 0.00008
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser) rs141588557 0.00007
NM_021942.6(TRAPPC11):c.1058C>G (p.Ala353Gly) rs200078740 0.00006
NM_021942.6(TRAPPC11):c.1244G>A (p.Gly415Glu) rs150383310 0.00006
NM_021942.6(TRAPPC11):c.1745A>G (p.Gln582Arg) rs533474499 0.00006
NM_021942.6(TRAPPC11):c.2651C>T (p.Thr884Ile) rs373484248 0.00006
NM_021942.6(TRAPPC11):c.1220C>A (p.Ser407Tyr) rs375379302 0.00005
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021942.6(TRAPPC11):c.1463G>T (p.Trp488Leu) rs779673117 0.00004
NM_021942.6(TRAPPC11):c.1664T>A (p.Ile555Asn) rs752315503 0.00004
NM_021942.6(TRAPPC11):c.2084C>T (p.Thr695Met) rs759325090 0.00004
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs) rs1216637259 0.00004
NM_021942.6(TRAPPC11):c.3194G>A (p.Arg1065Gln) rs567387885 0.00004
NM_021942.6(TRAPPC11):c.660+3G>A rs377549138 0.00004
NM_021942.6(TRAPPC11):c.43C>T (p.Arg15Trp) rs532605756 0.00003
NM_021942.6(TRAPPC11):c.899A>T (p.Asp300Val) rs768253464 0.00003
NM_021942.6(TRAPPC11):c.2242A>G (p.Ile748Val) rs368432060 0.00002
NM_021942.6(TRAPPC11):c.2786C>G (p.Ser929Cys) rs1275717721 0.00002
NM_021942.6(TRAPPC11):c.3221A>C (p.Gln1074Pro) rs368699954 0.00002
NM_021942.6(TRAPPC11):c.1208G>A (p.Ser403Asn) rs761391260 0.00001
NM_021942.6(TRAPPC11):c.1396G>A (p.Ala466Thr) rs756747035 0.00001
NM_021942.6(TRAPPC11):c.1735A>G (p.Ile579Val) rs368529822 0.00001
NM_021942.6(TRAPPC11):c.2071C>G (p.Leu691Val) rs777107611 0.00001
NM_021942.6(TRAPPC11):c.212C>T (p.Ser71Leu) rs774887816 0.00001
NM_021942.6(TRAPPC11):c.2531G>A (p.Arg844His) rs781082721 0.00001
NM_021942.6(TRAPPC11):c.2708A>G (p.Glu903Gly) rs1398795151 0.00001
NM_021942.6(TRAPPC11):c.2761T>G (p.Ser921Ala) rs755600230 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.3253G>T (p.Ala1085Ser) rs1319124548 0.00001
NM_021942.6(TRAPPC11):c.44G>A (p.Arg15Gln) rs368097747 0.00001
NM_021942.6(TRAPPC11):c.660+5G>A rs770891745 0.00001
NM_021942.6(TRAPPC11):c.1079G>A (p.Arg360Gln)
NM_021942.6(TRAPPC11):c.1081A>C (p.Lys361Gln)
NM_021942.6(TRAPPC11):c.1113+2T>G rs2111348918
NM_021942.6(TRAPPC11):c.1170C>G (p.Asp390Glu) rs1328121937
NM_021942.6(TRAPPC11):c.1322C>T (p.Ala441Val)
NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)
NM_021942.6(TRAPPC11):c.1366+1G>A
NM_021942.6(TRAPPC11):c.1451G>A (p.Arg484Gln)
NM_021942.6(TRAPPC11):c.1493C>G (p.Thr498Arg)
NM_021942.6(TRAPPC11):c.1681G>T (p.Ala561Ser)
NM_021942.6(TRAPPC11):c.16T>C (p.Trp6Arg) rs981293069
NM_021942.6(TRAPPC11):c.1724A>G (p.Asn575Ser)
NM_021942.6(TRAPPC11):c.1893+3A>G rs886041053
NM_021942.6(TRAPPC11):c.190A>G (p.Lys64Glu) rs1734713616
NM_021942.6(TRAPPC11):c.2014G>C (p.Val672Leu) rs1415116624
NM_021942.6(TRAPPC11):c.208A>G (p.Thr70Ala)
NM_021942.6(TRAPPC11):c.2112G>C (p.Gln704His)
NM_021942.6(TRAPPC11):c.2123G>A (p.Gly708Glu)
NM_021942.6(TRAPPC11):c.2170A>G (p.Lys724Glu)
NM_021942.6(TRAPPC11):c.2393A>G (p.Asp798Gly)
NM_021942.6(TRAPPC11):c.2436_2440del (p.Glu813fs) rs2111068286
NM_021942.6(TRAPPC11):c.2530C>T (p.Arg844Cys) rs149626892
NM_021942.6(TRAPPC11):c.2593G>A (p.Val865Ile)
NM_021942.6(TRAPPC11):c.2609T>C (p.Ile870Thr)
NM_021942.6(TRAPPC11):c.2776A>G (p.Thr926Ala) rs1219763538
NM_021942.6(TRAPPC11):c.2875G>A (p.Ala959Thr)
NM_021942.6(TRAPPC11):c.2966C>T (p.Thr989Ile)
NM_021942.6(TRAPPC11):c.2989A>G (p.Ile997Val)
NM_021942.6(TRAPPC11):c.301T>C (p.Tyr101His)
NM_021942.6(TRAPPC11):c.3032A>C (p.Asn1011Thr)
NM_021942.6(TRAPPC11):c.3040C>T (p.Leu1014Phe) rs79057512
NM_021942.6(TRAPPC11):c.3104A>T (p.His1035Leu) rs762555782
NM_021942.6(TRAPPC11):c.3242A>C (p.Tyr1081Ser)
NM_021942.6(TRAPPC11):c.3254C>T (p.Ala1085Val)
NM_021942.6(TRAPPC11):c.329G>T (p.Trp110Leu)
NM_021942.6(TRAPPC11):c.3340A>G (p.Thr1114Ala) rs866236252
NM_021942.6(TRAPPC11):c.3377A>G (p.Asp1126Gly)
NM_021942.6(TRAPPC11):c.533C>T (p.Thr178Ile)
NM_021942.6(TRAPPC11):c.728C>T (p.Ala243Val)
NM_021942.6(TRAPPC11):c.830A>G (p.Lys277Arg)
NM_021942.6(TRAPPC11):c.895A>G (p.Ile299Val)
NM_021942.6(TRAPPC11):c.944A>G (p.His315Arg) rs533000838
NM_021942.6(TRAPPC11):c.964C>T (p.Gln322Ter) rs1483190866

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