ClinVar Miner

List of variants in gene COL12A1 studied for Bethlem myopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
Download table as spreadsheet
HGVS dbSNP
NM_004370.5(COL12A1):c.100A>G (p.Lys34Glu)
NM_004370.5(COL12A1):c.1053G>T (p.Lys351Asn)
NM_004370.5(COL12A1):c.1110A>G (p.Pro370=) rs575544133
NM_004370.5(COL12A1):c.113A>C (p.Glu38Ala)
NM_004370.5(COL12A1):c.1152T>C (p.Pro384=) rs200496785
NM_004370.5(COL12A1):c.1175G>A (p.Arg392His) rs755195861
NM_004370.5(COL12A1):c.1176C>T (p.Arg392=) rs751787368
NM_004370.5(COL12A1):c.1177G>A (p.Asp393Asn)
NM_004370.5(COL12A1):c.1186G>A (p.Ala396Thr)
NM_004370.5(COL12A1):c.1276A>G (p.Lys426Glu)
NM_004370.5(COL12A1):c.132A>G (p.Ser44=) rs201454637
NM_004370.5(COL12A1):c.1356G>T (p.Gly452=)
NM_004370.5(COL12A1):c.1434G>C (p.Gln478His)
NM_004370.5(COL12A1):c.1471G>C (p.Glu491Gln)
NM_004370.5(COL12A1):c.1551A>G (p.Thr517=) rs34767467
NM_004370.5(COL12A1):c.1644C>A (p.Ile548=) rs147111006
NM_004370.5(COL12A1):c.1775C>T (p.Ala592Val)
NM_004370.5(COL12A1):c.177G>A (p.Val59=) rs772158281
NM_004370.5(COL12A1):c.1783C>A (p.His595Asn) rs370544100
NM_004370.5(COL12A1):c.188C>T (p.Thr63Met)
NM_004370.5(COL12A1):c.1892-4dup
NM_004370.5(COL12A1):c.1892-6_1892-5insG
NM_004370.5(COL12A1):c.1892-7T>C rs779185109
NM_004370.5(COL12A1):c.1892-7_1892-6insC rs34433354
NM_004370.5(COL12A1):c.1892-8_1892-6delTTA rs199713791
NM_004370.5(COL12A1):c.1896C>T (p.Tyr632=) rs201266825
NM_004370.5(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.5(COL12A1):c.1988A>G (p.His663Arg) rs764241362
NM_004370.5(COL12A1):c.2006C>T (p.Ala669Val) rs201657576
NM_004370.5(COL12A1):c.2007G>A (p.Ala669=) rs77790445
NM_004370.5(COL12A1):c.2038C>G (p.Pro680Ala)
NM_004370.5(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.5(COL12A1):c.2055T>C (p.Ser685=) rs780620827
NM_004370.5(COL12A1):c.2086T>C (p.Leu696=) rs116691242
NM_004370.5(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.5(COL12A1):c.2180G>A (p.Arg727Gln)
NM_004370.5(COL12A1):c.226A>G (p.Thr76Ala)
NM_004370.5(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088
NM_004370.5(COL12A1):c.2314C>T (p.Pro772Ser)
NM_004370.5(COL12A1):c.2324G>A (p.Arg775Lys)
NM_004370.5(COL12A1):c.2374G>A (p.Val792Ile)
NM_004370.5(COL12A1):c.2480C>T (p.Thr827Met) rs149832668
NM_004370.5(COL12A1):c.2481G>A (p.Thr827=) rs35170847
NM_004370.5(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321
NM_004370.5(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.5(COL12A1):c.2569C>G (p.Gln857Glu)
NM_004370.5(COL12A1):c.2588G>A (p.Gly863Glu)
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.2696G>A (p.Gly899Glu) rs201382636
NM_004370.5(COL12A1):c.2703A>C (p.Thr901=) rs1554186125
NM_004370.5(COL12A1):c.2714G>A (p.Arg905His)
NM_004370.5(COL12A1):c.2772T>C (p.Tyr924=) rs35429515
NM_004370.5(COL12A1):c.2879C>T (p.Thr960Met) rs200698641
NM_004370.5(COL12A1):c.292G>A (p.Asp98Asn) rs558571598
NM_004370.5(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405
NM_004370.5(COL12A1):c.2968G>T (p.Asp990Tyr)
NM_004370.5(COL12A1):c.29_30delCCinsAA (p.Ala10Glu)
NM_004370.5(COL12A1):c.3021A>G (p.Glu1007=) rs368940290
NM_004370.5(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260
NM_004370.5(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883
NM_004370.5(COL12A1):c.3202A>G (p.Ile1068Val) rs201852681
NM_004370.5(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385
NM_004370.5(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055
NM_004370.5(COL12A1):c.3467A>T (p.Asn1156Ile)
NM_004370.5(COL12A1):c.3534C>T (p.Ser1178=) rs747982811
NM_004370.5(COL12A1):c.3630C>T (p.Ile1210=) rs572531941
NM_004370.5(COL12A1):c.3638C>A (p.Ala1213Glu)
NM_004370.5(COL12A1):c.3650C>A (p.Thr1217Asn)
NM_004370.5(COL12A1):c.3651C>T (p.Thr1217=) rs140319205
NM_004370.5(COL12A1):c.3670C>T (p.Arg1224Cys)
NM_004370.5(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.5(COL12A1):c.3782G>A (p.Ser1261Asn)
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.3814A>G (p.Lys1272Glu)
NM_004370.5(COL12A1):c.3835+4A>G
NM_004370.5(COL12A1):c.3892C>A (p.Pro1298Thr)
NM_004370.5(COL12A1):c.3899C>T (p.Ala1300Val)
NM_004370.5(COL12A1):c.3905A>G (p.Lys1302Arg)
NM_004370.5(COL12A1):c.3928G>C (p.Gly1310Arg)
NM_004370.5(COL12A1):c.395-2A>C
NM_004370.5(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.5(COL12A1):c.3994delG (p.Ala1332Leufs) rs1554182935
NM_004370.5(COL12A1):c.4000+5G>A rs181257320
NM_004370.5(COL12A1):c.4001-10G>A rs73749974
NM_004370.5(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.5(COL12A1):c.4010A>G (p.Asn1337Ser)
NM_004370.5(COL12A1):c.4052A>G (p.Asp1351Gly)
NM_004370.5(COL12A1):c.4070A>G (p.Asn1357Ser)
NM_004370.5(COL12A1):c.4186C>A (p.Arg1396=) rs115511838
NM_004370.5(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422
NM_004370.5(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189
NM_004370.5(COL12A1):c.42G>A (p.Ala14=)
NM_004370.5(COL12A1):c.4312A>G (p.Ser1438Gly)
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.4445T>C (p.Ile1482Thr)
NM_004370.5(COL12A1):c.4479G>A (p.Gln1493=) rs370024636
NM_004370.5(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424
NM_004370.5(COL12A1):c.4676T>C (p.Val1559Ala)
NM_004370.5(COL12A1):c.469A>G (p.Lys157Glu)
NM_004370.5(COL12A1):c.4701C>G (p.Pro1567=) rs17791238
NM_004370.5(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.5(COL12A1):c.4853G>T (p.Ser1618Ile)
NM_004370.5(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847
NM_004370.5(COL12A1):c.4917C>T (p.Asp1639=) rs80102965
NM_004370.5(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973
NM_004370.5(COL12A1):c.4958-7A>C rs1332779
NM_004370.5(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593
NM_004370.5(COL12A1):c.5005G>C (p.Glu1669Gln) rs181511246
NM_004370.5(COL12A1):c.5093T>C (p.Met1698Thr)
NM_004370.5(COL12A1):c.5098-5C>T rs766762283
NM_004370.5(COL12A1):c.5133C>T (p.Phe1711=) rs180961776
NM_004370.5(COL12A1):c.5221G>A (p.Glu1741Lys) rs200201449
NM_004370.5(COL12A1):c.5225G>A (p.Arg1742His) rs79830915
NM_004370.5(COL12A1):c.5230+1G>A
NM_004370.5(COL12A1):c.525G>A (p.Glu175=) rs199736979
NM_004370.5(COL12A1):c.5308A>G (p.Thr1770Ala)
NM_004370.5(COL12A1):c.5352G>A (p.Arg1784=) rs1372127467
NM_004370.5(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.5(COL12A1):c.5402T>C (p.Ile1801Thr) rs200317239
NM_004370.5(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.5(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604
NM_004370.5(COL12A1):c.5460T>A (p.Thr1820=) rs1003584679
NM_004370.5(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.5(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408
NM_004370.5(COL12A1):c.5508G>A (p.Thr1836=) rs77425231
NM_004370.5(COL12A1):c.5547C>A (p.Asn1849Lys)
NM_004370.5(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.5(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309
NM_004370.5(COL12A1):c.5615G>A (p.Arg1872His)
NM_004370.5(COL12A1):c.5676C>T (p.Pro1892=) rs200130428
NM_004370.5(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364
NM_004370.5(COL12A1):c.5767G>A (p.Gly1923Arg)
NM_004370.5(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.5(COL12A1):c.5850C>T (p.Leu1950=) rs779833436
NM_004370.5(COL12A1):c.5873C>G (p.Pro1958Arg)
NM_004370.5(COL12A1):c.5874A>G (p.Pro1958=) rs186035636
NM_004370.5(COL12A1):c.5881G>A (p.Val1961Met)
NM_004370.5(COL12A1):c.5883G>C (p.Val1961=) rs368930149
NM_004370.5(COL12A1):c.5893C>A (p.Arg1965Ser)
NM_004370.5(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.5(COL12A1):c.5954A>G (p.Asn1985Ser)
NM_004370.5(COL12A1):c.5978G>A (p.Arg1993Gln)
NM_004370.5(COL12A1):c.597A>G (p.Gln199=) rs368715192
NM_004370.5(COL12A1):c.5987C>T (p.Pro1996Leu)
NM_004370.5(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761
NM_004370.5(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461
NM_004370.5(COL12A1):c.6070C>T (p.Pro2024Ser)
NM_004370.5(COL12A1):c.607C>A (p.Leu203Ile) rs375673671
NM_004370.5(COL12A1):c.6100T>C (p.Phe2034Leu)
NM_004370.5(COL12A1):c.6120C>T (p.Ser2040=) rs200570792
NM_004370.5(COL12A1):c.6198A>C (p.Pro2066=) rs34619869
NM_004370.5(COL12A1):c.626A>C (p.Lys209Thr) rs75535959
NM_004370.5(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848
NM_004370.5(COL12A1):c.6345A>G (p.Gly2115=) rs553575841
NM_004370.5(COL12A1):c.6444A>T (p.Ile2148=) rs36002196
NM_004370.5(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866
NM_004370.5(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808
NM_004370.5(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107
NM_004370.5(COL12A1):c.6608T>C (p.Leu2203Ser)
NM_004370.5(COL12A1):c.6641A>G (p.Gln2214Arg) rs41269303
NM_004370.5(COL12A1):c.6652G>C (p.Asp2218His)
NM_004370.5(COL12A1):c.6660C>G (p.Phe2220Leu)
NM_004370.5(COL12A1):c.6752G>A (p.Arg2251His) rs151324784
NM_004370.5(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372
NM_004370.5(COL12A1):c.6889G>A (p.Ala2297Thr)
NM_004370.5(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.5(COL12A1):c.6919C>T (p.Pro2307Ser)
NM_004370.5(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.5(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.5(COL12A1):c.7025T>C (p.Val2342Ala)
NM_004370.5(COL12A1):c.7048G>T (p.Val2350Leu)
NM_004370.5(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.5(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495
NM_004370.5(COL12A1):c.7269G>A (p.Lys2423=) rs776372586
NM_004370.5(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.5(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.5(COL12A1):c.7338G>T (p.Leu2446Phe)
NM_004370.5(COL12A1):c.741T>G (p.Ile247Met)
NM_004370.5(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.5(COL12A1):c.7541A>G (p.Asp2514Gly)
NM_004370.5(COL12A1):c.7569G>A (p.Met2523Ile)
NM_004370.5(COL12A1):c.7690C>T (p.Pro2564Ser) rs199724285
NM_004370.5(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072
NM_004370.5(COL12A1):c.7840+9T>G rs774128333
NM_004370.5(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.5(COL12A1):c.7854G>C (p.Thr2618=) rs190984968
NM_004370.5(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
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.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.5(COL12A1):c.8179-10A>G rs142509363
NM_004370.5(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004370.5(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.5(COL12A1):c.8336G>A (p.Arg2779His)
NM_004370.5(COL12A1):c.834T>G (p.Ala278=) rs16886258
NM_004370.5(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094
NM_004370.5(COL12A1):c.8361_8378delCCAGGGTCCTCCAGGCCC (p.Pro2791_Pro2796del)
NM_004370.5(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579
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.8421C>T (p.Arg2807=) rs371949188
NM_004370.5(COL12A1):c.8465G>A (p.Arg2822Gln)
NM_004370.5(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.5(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.5(COL12A1):c.8495C>G (p.Pro2832Arg)
NM_004370.5(COL12A1):c.8501C>G (p.Pro2834Arg)
NM_004370.5(COL12A1):c.8524-3T>C
NM_004370.5(COL12A1):c.8548A>G (p.Met2850Val)
NM_004370.5(COL12A1):c.8565A>G (p.Pro2855=) rs202239067
NM_004370.5(COL12A1):c.8622A>G (p.Pro2874=) rs368321891
NM_004370.5(COL12A1):c.8639A>G (p.His2880Arg) rs185171880
NM_004370.5(COL12A1):c.8686-5A>T rs749754621
NM_004370.5(COL12A1):c.8751T>A (p.Ser2917Arg)
NM_004370.5(COL12A1):c.8831C>T (p.Pro2944Leu)
NM_004370.5(COL12A1):c.8841G>A (p.Pro2947=) rs767339128
NM_004370.5(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.5(COL12A1):c.8875C>T (p.Pro2959Ser)
NM_004370.5(COL12A1):c.8885G>C (p.Gly2962Ala)
NM_004370.5(COL12A1):c.8925A>G (p.Gly2975=) rs190820180
NM_004370.5(COL12A1):c.8970T>C (p.Gly2990=) rs190501064
NM_004370.5(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477
NM_004370.5(COL12A1):c.9006C>T (p.Pro3002=) rs184663595
NM_004370.5(COL12A1):c.9076C>G (p.Pro3026Ala)
NM_004370.5(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004370.5(COL12A1):c.9108A>G (p.Gly3036=) rs777425494
NM_004370.5(COL12A1):c.9146G>A (p.Cys3049Tyr)
NM_004370.5(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916
NM_004370.5(COL12A1):c.9187G>A (p.Gly3063Ser)
NM_004370.5(COL12A1):c.922A>T (p.Ile308Phe)
NM_080645.2(COL12A1):c.1796A>G (p.Asn599Ser) rs755536829

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