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: 277
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HGVS dbSNP
NM_001848.2(COL6A1):c.1029A>C (p.Pro343=) rs1556425843
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.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=) rs557250335
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1462-8C>T rs199849694
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) rs143755280
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.1708G>A (p.Ala570Thr) rs144358858
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) rs148439285
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
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.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.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.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.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.273G>A (p.Leu91=) rs759821375
NM_001848.2(COL6A1):c.2751C>T (p.Asn917=) rs767760988
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.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
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.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.609C>T (p.Ile203=) rs369590506
NM_001848.2(COL6A1):c.624G>A (p.Thr208=) rs573282005
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.69G>A (p.Pro23=) rs149741299
NM_001848.2(COL6A1):c.717+9C>T rs183868804
NM_001848.2(COL6A1):c.813A>G (p.Arg271=) rs748184568
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_001849.3(COL6A2):c.1000-6C>T rs761428568
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1129C>T (p.Arg377Cys) rs144801620
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.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+14delCAGTGC 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.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1606G>A (p.Glu536Lys) rs143338050
NM_001849.3(COL6A2):c.1671+9_1671+10invCA
NM_001849.3(COL6A2):c.1674G>A (p.Ala558=) rs144334894
NM_001849.3(COL6A2):c.1816+9C>T rs1456625954
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.1944C>T (p.Ile648=) rs148178994
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.1970-3C>A rs201879417
NM_001849.3(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077
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.2454C>T (p.Cys818=) rs199499499
NM_001849.3(COL6A2):c.2462-5C>T rs760890154
NM_001849.3(COL6A2):c.2462-5dupC rs797044699
NM_001849.3(COL6A2):c.2517C>T (p.Asp839=) rs113002150
NM_001849.3(COL6A2):c.2565C>T (p.Phe855=) rs774805224
NM_001849.3(COL6A2):c.2580G>A (p.Ala860=) rs146420786
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.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.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2850C>T (p.Gly950=) rs751192681
NM_001849.3(COL6A2):c.2937C>T (p.Asp979=) rs150716220
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.2997G>A (p.Glu999=) rs751494076
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.511G>A (p.Gly171Arg) rs200710788
NM_001849.3(COL6A2):c.528G>A (p.Gln176=) rs377585812
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.759A>G (p.Glu253=) rs140404854
NM_001849.3(COL6A2):c.828G>A (p.Pro276=) rs140790797
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.987C>T (p.Thr329=) rs748215430
NM_001849.3(COL6A2):c.999+7G>A rs199783099
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.1293G>A (p.Pro431=) rs376912950
NM_004369.3(COL6A3):c.1312+7A>G rs949869773
NM_004369.3(COL6A3):c.1566C>A (p.Ala522=) rs771948237
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.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2487C>T (p.Leu829=) rs752530417
NM_004369.3(COL6A3):c.2517G>A (p.Leu839=) rs187237497
NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) rs556079869
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.3117C>T (p.Gly1039=) rs922629653
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3287G>A (p.Arg1096His) rs200860322
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.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.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.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.4617G>A (p.Gly1539=) rs1420997887
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.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.5609G>A (p.Ser1870Asn) rs114804083
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.576G>A (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5770G>A (p.Val1924Ile) rs778162038
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.5877G>C (p.Leu1959=) rs752905591
NM_004369.3(COL6A3):c.6129C>T (p.Arg2043=) rs576524993
NM_004369.3(COL6A3):c.6138C>T (p.Ile2046=) rs115401779
NM_004369.3(COL6A3):c.6237C>T (p.Asn2079=) rs34390834
NM_004369.3(COL6A3):c.624C>T (p.Asp208=) rs757316338
NM_004369.3(COL6A3):c.6372T>C (p.Pro2124=) rs894679602
NM_004369.3(COL6A3):c.6528C>T (p.Leu2176=) rs560225578
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.7107C>T (p.Asn2369=) rs1410340783
NM_004369.3(COL6A3):c.7113C>T (p.Gly2371=) rs375729592
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.7551C>T (p.Asn2517=) rs570963533
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.7749G>A (p.Thr2583=) rs758582935
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
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.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.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.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.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.936C>T (p.Leu312=) rs377629176
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_004370.5(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.5(COL12A1):c.1152T>C (p.Pro384=) rs200496785
NM_004370.5(COL12A1):c.1176C>T (p.Arg392=) rs751787368
NM_004370.5(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.5(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.5(COL12A1):c.177G>A (p.Val59=) rs772158281
NM_004370.5(COL12A1):c.1892-7T>C rs779185109
NM_004370.5(COL12A1):c.1892-7_1892-6insC rs34433354
NM_004370.5(COL12A1):c.1896C>T (p.Tyr632=) rs201266825
NM_004370.5(COL12A1):c.2055T>C (p.Ser685=) rs780620827
NM_004370.5(COL12A1):c.2480C>T (p.Thr827Met) rs149832668
NM_004370.5(COL12A1):c.2604G>T (p.Thr868=) rs554348257
NM_004370.5(COL12A1):c.2691T>G (p.Gly897=) rs1554186131
NM_004370.5(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.5(COL12A1):c.3021A>G (p.Glu1007=) rs368940290
NM_004370.5(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.5(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.5(COL12A1):c.3798G>C (p.Val1266=) rs1210652893
NM_004370.5(COL12A1):c.3810G>A (p.Pro1270=) rs370675782
NM_004370.5(COL12A1):c.4000+5G>A rs181257320
NM_004370.5(COL12A1):c.4371G>T (p.Val1457=) rs761741355
NM_004370.5(COL12A1):c.4428T>C (p.Pro1476=) rs1554182178
NM_004370.5(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.5(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.5(COL12A1):c.4958-7A>C rs1332779
NM_004370.5(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.5(COL12A1):c.5098-5C>T rs766762283
NM_004370.5(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.5(COL12A1):c.525G>A (p.Glu175=) rs199736979
NM_004370.5(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.5(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239
NM_004370.5(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.5(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.5(COL12A1):c.5850C>T (p.Leu1950=) rs779833436
NM_004370.5(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.5(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.5(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.5(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303
NM_004370.5(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.5(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.5(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.5(COL12A1):c.7840+9T>G rs774128333
NM_004370.5(COL12A1):c.7854G>C (p.Thr2618=) rs190984968
NM_004370.5(COL12A1):c.7893A>G (p.Gln2631=) rs1015843320
NM_004370.5(COL12A1):c.7898T>C (p.Val2633Ala) rs200408101
NM_004370.5(COL12A1):c.7990A>G (p.Ile2664Val) rs41266763
NM_004370.5(COL12A1):c.8405C>T (p.Pro2802Leu) rs200646131
NM_004370.5(COL12A1):c.8420G>A (p.Arg2807His) rs186328815
NM_004370.5(COL12A1):c.8639A>G (p.His2880Arg) rs185171880
NM_004370.5(COL12A1):c.8686-5A>T rs749754621
NM_004370.5(COL12A1):c.8841G>A (p.Pro2947=) rs767339128
NM_004370.5(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.5(COL12A1):c.9108A>G (p.Gly3036=) rs777425494

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