ClinVar Miner

List of variants reported as likely benign for Bethlem myopathy by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 477
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HGVS dbSNP
NM_001848.2(COL6A1):c.1002+6_1002+88del rs1556425727
NM_001848.2(COL6A1):c.1003-10C>T rs182440627
NM_001848.2(COL6A1):c.1015T>C (p.Tyr339His) rs186775751
NM_001848.2(COL6A1):c.1047C>T (p.Pro349=) rs202227298
NM_001848.2(COL6A1):c.105C>G (p.Pro35=) rs145579577
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1179C>T (p.Asp393=) rs182068143
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=) rs557250335
NM_001848.2(COL6A1):c.1233C>T (p.Asp411=) rs140478280
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=) rs148630223
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1462-8C>T rs199849694
NM_001848.2(COL6A1):c.1566C>T (p.Pro522=) rs753063150
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) rs143755280
NM_001848.2(COL6A1):c.1611+8C>T rs376055208
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.162C>T (p.Pro54=) rs775062782
NM_001848.2(COL6A1):c.1656C>T (p.Ala552=) rs377213930
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) rs369802454
NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) rs148439285
NM_001848.2(COL6A1):c.1941G>A (p.Arg647=) rs139914666
NM_001848.2(COL6A1):c.1957-4A>G rs184484842
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.2(COL6A1):c.2022G>A (p.Val674=) rs764099825
NM_001848.2(COL6A1):c.2067-6A>G rs113876477
NM_001848.2(COL6A1):c.2157G>C (p.Pro719=) rs377152990
NM_001848.2(COL6A1):c.2187C>T (p.Asp729=) rs369502543
NM_001848.2(COL6A1):c.2304G>C (p.Gln768His) rs376567898
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890
NM_001848.2(COL6A1):c.2352C>T (p.Pro784=) rs377558756
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) rs149910296
NM_001848.2(COL6A1):c.2358C>T (p.Leu786=) rs886042391
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) rs760768642
NM_001848.2(COL6A1):c.2464+9C>T rs368651226
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) rs146662894
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2601C>T (p.Pro867=) rs200124802
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) rs540554122
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=) rs372931456
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2820G>A (p.Leu940=) rs111451684
NM_001848.2(COL6A1):c.2853G>A (p.Thr951=) rs890068806
NM_001848.2(COL6A1):c.2856C>T (p.Pro952=) rs140427635
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.2(COL6A1):c.2876T>C (p.Val959Ala) rs144814689
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=) rs150509473
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.357G>A (p.Ala119=) rs747037863
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val) rs139648899
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.424G>C (p.Val142Leu) rs144282452
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg) rs756141940
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.669C>T (p.Asp223=) rs552000247
NM_001848.2(COL6A1):c.678G>A (p.Glu226=) rs1370178953
NM_001848.2(COL6A1):c.705C>T (p.Ile235=) rs536786554
NM_001848.2(COL6A1):c.717+9C>T rs183868804
NM_001848.2(COL6A1):c.726C>T (p.Asn242=) rs142102852
NM_001848.2(COL6A1):c.931-5C>T rs371841573
NM_001848.2(COL6A1):c.981C>T (p.Ile327=) rs138401567
NM_001848.2(COL6A1):c.984C>T (p.Asp328=) rs781038607
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031
NM_001848.2(COL6A1):c.996C>T (p.Gly332=) rs11702055
NM_001848.2(COL6A1):c.997G>A (p.Val333Met) rs201525908
NM_001848.3(COL6A1):c.1488C>T (p.Ala496=) rs776768334
NM_001848.3(COL6A1):c.1521A>G (p.Glu507=) rs781233511
NM_001848.3(COL6A1):c.1977C>T (p.Tyr659=) rs121912937
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608
NM_001848.3(COL6A1):c.2434+7A>C rs769385161
NM_001848.3(COL6A1):c.2919C>T (p.Val973=) rs764490258
NM_001848.3(COL6A1):c.393C>T (p.Cys131=) rs1020779562
NM_001848.3(COL6A1):c.739-7C>T rs1603590124
NM_001849.3(COL6A2):c.1017C>T (p.Ile339=) rs766157503
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1117-7C>A rs202094835
NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620
NM_001849.3(COL6A2):c.115+10G>T rs200797233
NM_001849.3(COL6A2):c.115+6del rs578127995
NM_001849.3(COL6A2):c.1152G>A (p.Pro384=) rs148423929
NM_001849.3(COL6A2):c.116-6C>T rs761805565
NM_001849.3(COL6A2):c.1251C>T (p.Arg417=) rs61735827
NM_001849.3(COL6A2):c.129C>T (p.Cys43=) rs755324001
NM_001849.3(COL6A2):c.1332+10C>T rs886042745
NM_001849.3(COL6A2):c.1333-10C>G rs199513044
NM_001849.3(COL6A2):c.1356C>T (p.Pro452=) rs886044428
NM_001849.3(COL6A2):c.1437T>C (p.Ala479=) rs149077114
NM_001849.3(COL6A2):c.1458+9_1458+14del rs762583937
NM_001849.3(COL6A2):c.1489C>A (p.Pro497Thr) rs75581470
NM_001849.3(COL6A2):c.1518C>T (p.Pro506=) rs767192013
NM_001849.3(COL6A2):c.1599C>T (p.Arg533=) rs373635709
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) rs144334894
NM_001849.3(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1816+9C>T rs1456625954
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.1836C>T (p.Gly612=) rs141257132
NM_001849.3(COL6A2):c.1845C>T (p.Asp615=) rs908989305
NM_001849.3(COL6A2):c.189G>A (p.Thr63=) rs143583433
NM_001849.3(COL6A2):c.1944C>T (p.Ile648=) rs148178994
NM_001849.3(COL6A2):c.1945G>A (p.Ala649Thr) rs142002945
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) rs150253422
NM_001849.3(COL6A2):c.1969+10G>C rs201259184
NM_001849.3(COL6A2):c.1970-10C>T rs373369963
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=) rs146323303
NM_001849.3(COL6A2):c.2043C>T (p.Ile681=) rs373514837
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077
NM_001849.3(COL6A2):c.2181G>A (p.Ala727=) rs111938213
NM_001849.3(COL6A2):c.2182G>A (p.Val728Met) rs200585528
NM_001849.3(COL6A2):c.2205C>T (p.His735=) rs755147431
NM_001849.3(COL6A2):c.2235G>T (p.Arg745=) rs773668391
NM_001849.3(COL6A2):c.2238G>A (p.Ala746=) rs535581551
NM_001849.3(COL6A2):c.2244C>T (p.Cys748=) rs201426778
NM_001849.3(COL6A2):c.22G>A (p.Val8Met) rs192476178
NM_001849.3(COL6A2):c.2301C>T (p.His767=) rs138371054
NM_001849.3(COL6A2):c.2319C>T (p.Tyr773=) rs377458657
NM_001849.3(COL6A2):c.2332G>A (p.Asp778Asn) rs28562813
NM_001849.3(COL6A2):c.2361G>A (p.Thr787=) rs566966690
NM_001849.3(COL6A2):c.2423-9C>G rs368725753
NM_001849.3(COL6A2):c.2454C>T (p.Cys818=) rs199499499
NM_001849.3(COL6A2):c.2462-5C>T rs760890154
NM_001849.3(COL6A2):c.2490G>A (p.Arg830=) rs748047522
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) rs149697707
NM_001849.3(COL6A2):c.2538G>A (p.Glu846=) rs144475977
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=) rs146420786
NM_001849.3(COL6A2):c.2582G>A (p.Arg861Gln) rs373813975
NM_001849.3(COL6A2):c.2599C>T (p.Arg867Trp) rs144484744
NM_001849.3(COL6A2):c.2600G>A (p.Arg867Gln) rs61735831
NM_001849.3(COL6A2):c.2605G>A (p.Asp869Asn) rs141021828
NM_001849.3(COL6A2):c.2605G>T (p.Asp869Tyr) rs141021828
NM_001849.3(COL6A2):c.2607C>T (p.Asp869=) rs150219725
NM_001849.3(COL6A2):c.2661G>A (p.Glu887=) rs148249892
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2713C>T (p.Leu905=) rs753611948
NM_001849.3(COL6A2):c.2742C>T (p.Phe914=) rs747734639
NM_001849.3(COL6A2):c.2751G>T (p.Val917=) rs111341650
NM_001849.3(COL6A2):c.2766G>A (p.Val922=) rs557446829
NM_001849.3(COL6A2):c.2784C>T (p.Ile928=) rs199501232
NM_001849.3(COL6A2):c.2850C>T (p.Gly950=) rs751192681
NM_001849.3(COL6A2):c.2882C>T (p.Ala961Val) rs138674440
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
NM_001849.3(COL6A2):c.2938G>A (p.Val980Met) rs140020002
NM_001849.3(COL6A2):c.2961G>A (p.Thr987=) rs149845431
NM_001849.3(COL6A2):c.2982C>T (p.Ala994=) rs145460820
NM_001849.3(COL6A2):c.2994C>T (p.His998=) rs376362856
NM_001849.3(COL6A2):c.2995G>A (p.Glu999Lys) rs142296092
NM_001849.3(COL6A2):c.2997G>A (p.Glu999=) rs751494076
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.3018G>A (p.Ala1006=) rs61735832
NM_001849.3(COL6A2):c.3025G>A (p.Gly1009Ser) rs35887009
NM_001849.3(COL6A2):c.333G>A (p.Pro111=) rs370531466
NM_001849.3(COL6A2):c.344G>A (p.Arg115Gln) rs145352569
NM_001849.3(COL6A2):c.426G>A (p.Thr142=) rs149480738
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
NM_001849.3(COL6A2):c.568G>A (p.Val190Met) rs150877061
NM_001849.3(COL6A2):c.624G>A (p.Pro208=) rs146333253
NM_001849.3(COL6A2):c.672C>T (p.Thr224=) rs759388890
NM_001849.3(COL6A2):c.714+10G>A rs777394169
NM_001849.3(COL6A2):c.735+7G>A rs575365107
NM_001849.3(COL6A2):c.736-7G>A rs375288629
NM_001849.3(COL6A2):c.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.828G>A (p.Pro276=) rs140790797
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.855+8T>C rs370008311
NM_001849.3(COL6A2):c.942C>T (p.Ala314=) rs531713008
NM_001849.3(COL6A2):c.978G>A (p.Lys326=) rs1480541163
NM_001849.3(COL6A2):c.981C>T (p.Asn327=) rs768836349
NM_001849.3(COL6A2):c.999+10G>T rs376378709
NM_001849.3(COL6A2):c.999+7G>A rs199783099
NM_001849.4(COL6A2):c.1180-10C>T rs777782503
NM_001849.4(COL6A2):c.120G>A (p.Lys40=) rs200025682
NM_001849.4(COL6A2):c.1392C>T (p.Ala464=) rs1601235960
NM_001849.4(COL6A2):c.1449C>T (p.Pro483=) rs528087300
NM_001849.4(COL6A2):c.1593C>T (p.Gly531=) rs1394972929
NM_001849.4(COL6A2):c.1710G>A (p.Gly570=) rs377210303
NM_001849.4(COL6A2):c.1767C>T (p.Leu589=) rs528635866
NM_001849.4(COL6A2):c.186C>A (p.Pro62=) rs762050166
NM_001849.4(COL6A2):c.1920C>T (p.Asn640=) rs143819480
NM_001849.4(COL6A2):c.1970-3C>A rs201879417
NM_001849.4(COL6A2):c.1980G>T (p.Val660=) rs201427728
NM_001849.4(COL6A2):c.2034C>T (p.Asp678=) rs776187095
NM_001849.4(COL6A2):c.2133C>T (p.Tyr711=) rs531816975
NM_001849.4(COL6A2):c.2253C>T (p.Asp751=) rs747494120
NM_001849.4(COL6A2):c.2254G>A (p.Val752Ile)
NM_001849.4(COL6A2):c.2277C>T (p.Ile759=) rs201571249
NM_001849.4(COL6A2):c.2313C>T (p.Asn771=) rs373731822
NM_001849.4(COL6A2):c.2370C>T (p.Ser790=) rs530866573
NM_001849.4(COL6A2):c.2462-5dup rs797044699
NM_001849.4(COL6A2):c.2496G>A (p.Val832=) rs567775494
NM_001849.4(COL6A2):c.249C>T (p.Asn83=) rs151032529
NM_001849.4(COL6A2):c.2598C>G (p.Ala866=) rs376791811
NM_001849.4(COL6A2):c.2655C>T (p.Pro885=) rs374163190
NM_001849.4(COL6A2):c.2733G>A (p.Leu911=) rs139798208
NM_001849.4(COL6A2):c.273G>A (p.Ala91=) rs753168760
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001849.4(COL6A2):c.498C>T (p.Thr166=) rs762436629
NM_001849.4(COL6A2):c.720C>T (p.His240=) rs763803023
NM_001849.4(COL6A2):c.928-10T>A rs747608945
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) rs189772397
NM_004369.3(COL6A3):c.1149C>T (p.Ala383=) rs139016980
NM_004369.3(COL6A3):c.1214T>C (p.Phe405Ser) rs114549120
NM_004369.3(COL6A3):c.1263C>T (p.Gly421=) rs775821966
NM_004369.3(COL6A3):c.1293G>A (p.Pro431=) rs376912950
NM_004369.3(COL6A3):c.1312+7A>G rs949869773
NM_004369.3(COL6A3):c.1385A>G (p.Asn462Ser) rs200250810
NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1557C>T (p.Asp519=) rs145586177
NM_004369.3(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121
NM_004369.3(COL6A3):c.1566C>A (p.Ala522=) rs771948237
NM_004369.3(COL6A3):c.1572C>T (p.Tyr524=) rs115973206
NM_004369.3(COL6A3):c.1614G>A (p.Thr538=) rs535142787
NM_004369.3(COL6A3):c.1620A>G (p.Ser540=) rs200205650
NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) rs114144694
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.1833C>T (p.Ala611=) rs368242683
NM_004369.3(COL6A3):c.186A>G (p.Leu62=) rs773733833
NM_004369.3(COL6A3):c.1977C>T (p.Arg659=) rs141280228
NM_004369.3(COL6A3):c.2145G>A (p.Ser715=) rs375924639
NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2205C>T (p.Gly735=) rs148713779
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2730G>A (p.Thr910=) rs367991818
NM_004369.3(COL6A3):c.2994G>A (p.Ser998=) rs768233315
NM_004369.3(COL6A3):c.3063A>G (p.Pro1021=) rs200098134
NM_004369.3(COL6A3):c.3071-7C>T rs370229367
NM_004369.3(COL6A3):c.3088G>A (p.Val1030Met) rs116238578
NM_004369.3(COL6A3):c.3198C>T (p.Arg1066=) rs200621867
NM_004369.3(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257
NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) rs200860322
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900
NM_004369.3(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562
NM_004369.3(COL6A3):c.3498C>A (p.Gly1166=) rs1553560457
NM_004369.3(COL6A3):c.3654G>A (p.Pro1218=) rs778039312
NM_004369.3(COL6A3):c.3680-5C>T rs370146203
NM_004369.3(COL6A3):c.3699C>T (p.Asp1233=) rs542411896
NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208
NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775
NM_004369.3(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.3(COL6A3):c.4047C>T (p.Asp1349=) rs115893145
NM_004369.3(COL6A3):c.4090G>A (p.Val1364Met) rs35524572
NM_004369.3(COL6A3):c.4104G>A (p.Thr1368=) rs777649526
NM_004369.3(COL6A3):c.4110C>T (p.Ala1370=) rs1553559241
NM_004369.3(COL6A3):c.4116C>T (p.Asn1372=) rs369620378
NM_004369.3(COL6A3):c.4146G>A (p.Ser1382=) rs114791158
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998
NM_004369.3(COL6A3):c.4399A>G (p.Asn1467Asp) rs138049094
NM_004369.3(COL6A3):c.4431C>T (p.Val1477=) rs151289203
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.3(COL6A3):c.4534T>A (p.Ser1512Thr) rs1553557796
NM_004369.3(COL6A3):c.4617G>A (p.Gly1539=) rs1420997887
NM_004369.3(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952
NM_004369.3(COL6A3):c.4671C>T (p.Ser1557=) rs116760648
NM_004369.3(COL6A3):c.4677C>T (p.Phe1559=) rs147215386
NM_004369.3(COL6A3):c.4691G>A (p.Arg1564His) rs368151192
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.5394C>T (p.Arg1798=) rs202086524
NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542
NM_004369.3(COL6A3):c.5501-4C>G rs143237699
NM_004369.3(COL6A3):c.552G>A (p.Ala184=) rs542204130
NM_004369.3(COL6A3):c.5555T>C (p.Phe1852Ser) rs148488423
NM_004369.3(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083
NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=) rs886055807
NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) rs200285455
NM_004369.3(COL6A3):c.5743C>T (p.Arg1915Trp) rs201938007
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.6036C>T (p.Asp2012=) rs771602562
NM_004369.3(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695
NM_004369.3(COL6A3):c.6129C>T (p.Arg2043=) rs576524993
NM_004369.3(COL6A3):c.6132G>T (p.Gly2044=) rs762950440
NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) rs115401779
NM_004369.3(COL6A3):c.6372T>C (p.Pro2124=) rs894679602
NM_004369.3(COL6A3):c.6477C>T (p.Asn2159=) rs149697986
NM_004369.3(COL6A3):c.6528C>T (p.Leu2176=) rs560225578
NM_004369.3(COL6A3):c.6639C>T (p.Gly2213=) rs765837100
NM_004369.3(COL6A3):c.6654G>A (p.Pro2218=) rs147537071
NM_004369.3(COL6A3):c.6654G>T (p.Pro2218=) rs147537071
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6798C>T (p.Thr2266=) rs116541926
NM_004369.3(COL6A3):c.6852C>T (p.Ile2284=) rs374952003
NM_004369.3(COL6A3):c.7029+10C>T rs376525317
NM_004369.3(COL6A3):c.7107C>T (p.Asn2369=) rs1410340783
NM_004369.3(COL6A3):c.7113C>T (p.Gly2371=) rs375729592
NM_004369.3(COL6A3):c.7173C>T (p.Tyr2391=) rs114248590
NM_004369.3(COL6A3):c.7175-6C>G rs199723531
NM_004369.3(COL6A3):c.7212C>T (p.Ala2404=) rs1162382032
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.3(COL6A3):c.7266A>C (p.Arg2422=) rs778691629
NM_004369.3(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773
NM_004369.3(COL6A3):c.7401G>A (p.Ser2467=) rs377572272
NM_004369.3(COL6A3):c.7446C>G (p.Ser2482=) rs1439207088
NM_004369.3(COL6A3):c.7575G>A (p.Gln2525=) rs752232293
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004369.3(COL6A3):c.7749G>A (p.Thr2583=) rs758582935
NM_004369.3(COL6A3):c.7755T>C (p.His2585=) rs145581705
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
NM_004369.3(COL6A3):c.7843G>A (p.Asp2615Asn) rs145884404
NM_004369.3(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547
NM_004369.3(COL6A3):c.786C>T (p.Leu262=) rs111481402
NM_004369.3(COL6A3):c.7878C>T (p.Ser2626=) rs145136426
NM_004369.3(COL6A3):c.7953G>A (p.Met2651Ile) rs369537287
NM_004369.3(COL6A3):c.8007C>T (p.His2669=) rs528369978
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) rs140441798
NM_004369.3(COL6A3):c.8415C>T (p.Asn2805=) rs375442243
NM_004369.3(COL6A3):c.8436C>T (p.Phe2812=) rs571287679
NM_004369.3(COL6A3):c.843G>T (p.Val281=) rs376201065
NM_004369.3(COL6A3):c.8457C>T (p.Phe2819=) rs138683303
NM_004369.3(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119
NM_004369.3(COL6A3):c.861C>T (p.Ser287=) rs756380512
NM_004369.3(COL6A3):c.862G>A (p.Asp288Asn) rs115729513
NM_004369.3(COL6A3):c.8724C>T (p.Ala2908=) rs114684687
NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669
NM_004369.3(COL6A3):c.8846C>T (p.Pro2949Leu) rs376021820
NM_004369.3(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743
NM_004369.3(COL6A3):c.8970G>A (p.Lys2990=) rs113721676
NM_004369.3(COL6A3):c.8978G>A (p.Arg2993His) rs201888442
NM_004369.3(COL6A3):c.9045C>T (p.Pro3015=) rs144834964
NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=) rs183247300
NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.936C>T (p.Leu312=) rs377629176
NM_004369.3(COL6A3):c.9444C>T (p.Asn3148=) rs144291325
NM_004369.3(COL6A3):c.9494-7C>T rs374024399
NM_004369.3(COL6A3):c.9498C>T (p.Leu3166=) rs150376179
NM_004369.3(COL6A3):c.958G>A (p.Ala320Thr) rs115819851
NM_004369.3(COL6A3):c.984C>T (p.Phe328=) rs768609958
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) rs548519047
NM_004369.4(COL6A3):c.117T>C (p.Asp39=) rs1574757082
NM_004369.4(COL6A3):c.1452G>T (p.Val484=) rs1574726196
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=) rs767818130
NM_004369.4(COL6A3):c.237T>C (p.Ala79=) rs747312241
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) rs550122375
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=) rs115874872
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=) rs774059985
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=) rs143705718
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=) rs144612879
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=) rs1574695218
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=) rs199759398
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=) rs370475865
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=) rs1574978545
NM_004369.4(COL6A3):c.6538-5A>C rs1574971750
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=) rs762210213
NM_004369.4(COL6A3):c.6931-6T>C rs376338674
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=) rs773164702
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=) rs768794876
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=) rs749075993
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) rs369335838
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=) rs535306425
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=) rs149890179
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=) rs113423040
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=) rs143006225
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=) rs770062985
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile) rs564041158
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=) rs757091142
NM_004369.4(COL6A3):c.9494-6G>T rs367899223
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=) rs200496785
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=) rs751787368
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=) rs374962362
NM_004370.6(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=) rs192004528
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly) rs189762594
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=) rs780442166
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=) rs201511621
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=) rs199994914
NM_004370.6(COL12A1):c.1891+4A>G rs148292262
NM_004370.6(COL12A1):c.1892-7T>C rs779185109
NM_004370.6(COL12A1):c.1892-7_1892-6insC rs34433354
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=) rs201266825
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp) rs758146130
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=) rs1582191777
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=) rs776302292
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met) rs148810173
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe) rs376517147
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met) rs149832668
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=) rs374531525
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=) rs746395625
NM_004370.6(COL12A1):c.3099T>C (p.His1033=) rs751065518
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=) rs201270183
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met) rs201749138
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=) rs371282637
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=) rs1210652893
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=) rs370675782
NM_004370.6(COL12A1):c.384C>T (p.Thr128=) rs200378966
NM_004370.6(COL12A1):c.4000+5G>A rs181257320
NM_004370.6(COL12A1):c.4148-4G>A rs146899194
NM_004370.6(COL12A1):c.432C>T (p.Leu144=) rs528524927
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=) rs761741355
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=) rs202092920
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=) rs762128925
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=) rs1025841228
NM_004370.6(COL12A1):c.4958-7A>C rs1332779
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=) rs771078518
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=) rs190018580
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=) rs767349975
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=) rs371016672
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.6(COL12A1):c.5394+10T>A rs890398079
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=) rs766269568
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala) rs200029869
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=) rs144223578
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=) rs376241836
NM_004370.6(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=) rs1248355913
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=) rs200777154
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=) rs372703375
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=) rs1035643006
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val) rs752850582
NM_004370.6(COL12A1):c.6947-6T>C rs200538799
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=) rs377413592
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr) rs199673248
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=) rs763305624
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=) rs370691983
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=) rs190984968
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys) rs200693552
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His) rs186328815
NM_004370.6(COL12A1):c.8469+10T>C rs375332527
NM_004370.6(COL12A1):c.8578-4G>A rs780000164
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=) rs372700355
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg) rs185171880
NM_004370.6(COL12A1):c.8686-5A>T rs749754621
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=) rs767339128
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=) rs181007051
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=) rs369646700

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.