ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP
NM_001849.3(COL6A2):c.*5G>A rs377195134
NM_001849.3(COL6A2):c.-91_3071dup
NM_001849.3(COL6A2):c.1012C>T (p.Arg338Cys) rs775751831
NM_001849.3(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.3(COL6A2):c.1053+3A>T rs1555873388
NM_001849.3(COL6A2):c.1053+6G>A rs373181368
NM_001849.3(COL6A2):c.1060G>A (p.Asp354Asn) rs188184732
NM_001849.3(COL6A2):c.1071G>A (p.Pro357=) rs746727003
NM_001849.3(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.3(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.3(COL6A2):c.1111G>A (p.Gly371Ser)
NM_001849.3(COL6A2):c.1112G>T (p.Gly371Val)
NM_001849.3(COL6A2):c.1117-3C>T rs772428654
NM_001849.3(COL6A2):c.1118G>C (p.Gly373Ala)
NM_001849.3(COL6A2):c.1130G>A (p.Arg377His) rs148552966
NM_001849.3(COL6A2):c.1138C>T (p.Arg380Cys) rs142880107
NM_001849.3(COL6A2):c.116-3C>T
NM_001849.3(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883
NM_001849.3(COL6A2):c.1181G>C (p.Gly394Ala)
NM_001849.3(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.3(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.3(COL6A2):c.1263C>T (p.Gly421=)
NM_001849.3(COL6A2):c.1277G>C (p.Arg426Thr)
NM_001849.3(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501
NM_001849.3(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.3(COL6A2):c.1336G>C (p.Asp446His) rs535007570
NM_001849.3(COL6A2):c.1346C>G (p.Pro449Arg) rs886044030
NM_001849.3(COL6A2):c.1348G>C (p.Glu450Gln) rs757846451
NM_001849.3(COL6A2):c.1357C>T (p.Arg453Cys)
NM_001849.3(COL6A2):c.1358G>A (p.Arg453His) rs878854386
NM_001849.3(COL6A2):c.1396-26_1396-10del
NM_001849.3(COL6A2):c.1447C>T (p.Pro483Ser)
NM_001849.3(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.3(COL6A2):c.1477G>A (p.Gly493Ser)
NM_001849.3(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1498G>C (p.Asp500His) rs770222615
NM_001849.3(COL6A2):c.1568C>G (p.Ala523Gly)
NM_001849.3(COL6A2):c.1600G>A (p.Gly534Ser)
NM_001849.3(COL6A2):c.1616G>A (p.Arg539Gln)
NM_001849.3(COL6A2):c.1621G>A (p.Asp541Asn)
NM_001849.3(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.3(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639
NM_001849.3(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.3(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804
NM_001849.3(COL6A2):c.169G>A (p.Val57Ile) rs768434256
NM_001849.3(COL6A2):c.1762G>A (p.Gly588Ser) rs139488626
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1770G>A (p.Thr590=) rs150999832
NM_001849.3(COL6A2):c.1792G>A (p.Val598Met) rs149731632
NM_001849.3(COL6A2):c.181T>C (p.Ser61Pro) rs990733473
NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607
NM_001849.3(COL6A2):c.1912_1914del (p.Val638del)
NM_001849.3(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.3(COL6A2):c.1921G>A (p.Val641Met) rs1032420539
NM_001849.3(COL6A2):c.1925T>C (p.Val642Ala) rs760227367
NM_001849.3(COL6A2):c.1937G>A (p.Gly646Asp)
NM_001849.3(COL6A2):c.1969+4A>C rs775997945
NM_001849.3(COL6A2):c.2002G>A (p.Glu668Lys) rs138948335
NM_001849.3(COL6A2):c.2083G>A (p.Glu695Lys) rs377376395
NM_001849.3(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.3(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.3(COL6A2):c.2153G>A (p.Ser718Asn)
NM_001849.3(COL6A2):c.2171G>T (p.Arg724Leu) rs145450812
NM_001849.3(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.3(COL6A2):c.2181G>A (p.Ala727=)
NM_001849.3(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.3(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922
NM_001849.3(COL6A2):c.2237C>T (p.Ala746Val) rs761863452
NM_001849.3(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495
NM_001849.3(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.3(COL6A2):c.2278G>A (p.Gly760Arg)
NM_001849.3(COL6A2):c.2293G>A (p.Glu765Lys)
NM_001849.3(COL6A2):c.229T>C (p.Phe77Leu) rs199736749
NM_001849.3(COL6A2):c.2318A>C (p.Tyr773Ser)
NM_001849.3(COL6A2):c.2326G>A (p.Ala776Thr) rs759293889
NM_001849.3(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.3(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.3(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.3(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.3(COL6A2):c.2407G>A (p.Asp803Asn) rs761913437
NM_001849.3(COL6A2):c.2410G>A (p.Val804Ile) rs199896699
NM_001849.3(COL6A2):c.2420C>T (p.Pro807Leu)
NM_001849.3(COL6A2):c.2422+6C>T rs371950486
NM_001849.3(COL6A2):c.2425C>T (p.Pro809Ser)
NM_001849.3(COL6A2):c.2435T>C (p.Val812Ala) rs886044025
NM_001849.3(COL6A2):c.2470G>A (p.Val824Met) rs758758266
NM_001849.3(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met) rs755782924
NM_001849.3(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835
NM_001849.3(COL6A2):c.2524G>A (p.Glu842Lys) rs571051982
NM_001849.3(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198
NM_001849.3(COL6A2):c.2528G>A (p.Arg843Gln) rs201736323
NM_001849.3(COL6A2):c.2557C>T (p.Arg853Trp)
NM_001849.3(COL6A2):c.2561G>A (p.Arg854His)
NM_001849.3(COL6A2):c.2575G>A (p.Val859Met) rs370446082
NM_001849.3(COL6A2):c.2584C>T (p.Arg862Trp) rs777822883
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) rs200488881
NM_001849.3(COL6A2):c.2599C>A (p.Arg867=) rs144484744
NM_001849.3(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.2628C>T (p.Arg876=)
NM_001849.3(COL6A2):c.2629G>A (p.Val877Met) rs369396198
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.2656G>A (p.Gly886Ser) rs571488000
NM_001849.3(COL6A2):c.2659G>A (p.Glu887Lys) rs886043283
NM_001849.3(COL6A2):c.2671G>A (p.Ala891Thr)
NM_001849.3(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.3(COL6A2):c.2698G>A (p.Ala900Thr)
NM_001849.3(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722
NM_001849.3(COL6A2):c.2711C>T (p.Ala904Val) rs376665722
NM_001849.3(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.3(COL6A2):c.2749G>A (p.Val917Met) rs145381639
NM_001849.3(COL6A2):c.2761G>A (p.Val921Met) rs398123650
NM_001849.3(COL6A2):c.2769C>A (p.His923Gln)
NM_001849.3(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652
NM_001849.3(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756
NM_001849.3(COL6A2):c.2785G>A (p.Val929Met) rs145527336
NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168
NM_001849.3(COL6A2):c.2798G>A (p.Arg933His) rs374384263
NM_001849.3(COL6A2):c.2802C>T (p.Gly934=) rs151295731
NM_001849.3(COL6A2):c.2804G>A (p.Gly935Glu)
NM_001849.3(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246
NM_001849.3(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703
NM_001849.3(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.3(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup)
NM_001849.3(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208
NM_001849.3(COL6A2):c.284G>A (p.Arg95His) rs886042690
NM_001849.3(COL6A2):c.2855C>G (p.Thr952Arg)
NM_001849.3(COL6A2):c.2863G>A (p.Asp955Asn)
NM_001849.3(COL6A2):c.2875G>C (p.Glu959Gln) rs150168522
NM_001849.3(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.3(COL6A2):c.2887T>G (p.Ser963Ala)
NM_001849.3(COL6A2):c.2892G>A (p.Met964Ile)
NM_001849.3(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174
NM_001849.3(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.3(COL6A2):c.289G>A (p.Gly97Ser) rs750027302
NM_001849.3(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.3(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.3(COL6A2):c.2917G>A (p.Val973Met) rs145959270
NM_001849.3(COL6A2):c.2922G>A (p.Leu974=) rs556385546
NM_001849.3(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671
NM_001849.3(COL6A2):c.2935G>A (p.Asp979Asn) rs141579198
NM_001849.3(COL6A2):c.2938G>A (p.Val980Met)
NM_001849.3(COL6A2):c.2950G>A (p.Val984Met) rs752700701
NM_001849.3(COL6A2):c.2960C>T (p.Thr987Met) rs199955442
NM_001849.3(COL6A2):c.2977C>T (p.Arg993Cys)
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) rs142432514
NM_001849.3(COL6A2):c.2988dup (p.Phe997fs) rs1555877364
NM_001849.3(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092
NM_001849.3(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952
NM_001849.3(COL6A2):c.3007G>A (p.Asp1003Asn)
NM_001849.3(COL6A2):c.3026G>T (p.Gly1009Val) rs1157175258
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162
NM_001849.3(COL6A2):c.3047G>A (p.Arg1016His) rs376368468
NM_001849.3(COL6A2):c.340G>A (p.Asp114Asn) rs969934621
NM_001849.3(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.3(COL6A2):c.460G>A (p.Val154Ile)
NM_001849.3(COL6A2):c.484G>A (p.Asp162Asn)
NM_001849.3(COL6A2):c.487G>A (p.Gly163Ser) rs769456044
NM_001849.3(COL6A2):c.544G>A (p.Glu182Lys)
NM_001849.3(COL6A2):c.545A>G (p.Glu182Gly) rs760509198
NM_001849.3(COL6A2):c.556C>T (p.Arg186Trp)
NM_001849.3(COL6A2):c.557G>A (p.Arg186Gln)
NM_001849.3(COL6A2):c.581A>G (p.Gln194Arg) rs113509166
NM_001849.3(COL6A2):c.582G>C (p.Gln194His)
NM_001849.3(COL6A2):c.623C>T (p.Pro208Leu)
NM_001849.3(COL6A2):c.628G>A (p.Glu210Lys) rs113017484
NM_001849.3(COL6A2):c.638G>A (p.Arg213His) rs368064647
NM_001849.3(COL6A2):c.643G>A (p.Asp215Asn) rs563449281
NM_001849.3(COL6A2):c.673G>A (p.Glu225Lys)
NM_001849.3(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.3(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505
NM_001849.3(COL6A2):c.698G>A (p.Arg233His) rs146742517
NM_001849.3(COL6A2):c.730G>A (p.Gly244Arg) rs199806576
NM_001849.3(COL6A2):c.790C>T (p.Arg264Cys) rs760263812
NM_001849.3(COL6A2):c.791G>A (p.Arg264His) rs148029276
NM_001849.3(COL6A2):c.80C>T (p.Ser27Leu)
NM_001849.3(COL6A2):c.827C>T (p.Pro276Leu) rs757488307
NM_001849.3(COL6A2):c.83C>G (p.Pro28Arg)
NM_001849.3(COL6A2):c.863C>T (p.Pro288Leu) rs745566911
NM_001849.3(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.3(COL6A2):c.904G>A (p.Val302Ile)
NM_001849.3(COL6A2):c.946G>A (p.Gly316Ser)
NM_001849.3(COL6A2):c.961C>T (p.Pro321Ser)
NM_001849.3(COL6A2):c.988G>A (p.Asp330Asn) rs139399166

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