ClinVar Miner

List of variants in gene COL12A1 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: 244
Download table as spreadsheet
HGVS dbSNP
NM_004370.5(COL12A1):c.1892-4dup rs753233369
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly)
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala)
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys)
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn)
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val)
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=)
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His)
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala)
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu)
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg)
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met)
NM_004370.6(COL12A1):c.1892-6_1892-5insG
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg) rs764241362
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val) rs201657576
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val)
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val)
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser)
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu)
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln)
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met)
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr)
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val)
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr)
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu)
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His)
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met) rs200698641
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn) rs558571598
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)
NM_004370.6(COL12A1):c.2984-2A>G
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile)
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala)
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His)
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg) rs762817385
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn)
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys)
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys) rs373637483
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile)
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val)
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr)
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn) rs1436778165
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn)
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583
NM_004370.6(COL12A1):c.3835+4A>G
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr)
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val)
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser) rs1187079906
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe)
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe)
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly) rs1295465247
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val)
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln)
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189
NM_004370.6(COL12A1):c.42G>A (p.Ala14=)
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly)
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys)
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val)
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met)
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val)
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His) rs180718181
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile)
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His)
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys)
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu) rs779002973
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn) rs754587593
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp)
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr)
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys) rs530680231
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)
NM_004370.6(COL12A1):c.5251+4A>G
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys)
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys)
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile) rs201408175
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln) rs182768408
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys) rs201372309
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val)
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala)
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg)
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg)
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met)
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser)
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu)
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=)
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala)
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val)
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His) rs200450866
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu)
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser)
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His)
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln)
NM_004370.6(COL12A1):c.66G>A (p.Glu22=)
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr)
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)
NM_004370.6(COL12A1):c.6946+5G>A
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala)
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7210+4T>G
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe)
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val)
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys) rs372985511
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile)
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala)
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala)
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg)
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln)
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)
NM_004370.6(COL12A1):c.8524-3T>C
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
NM_004370.6(COL12A1):c.8577+4A>G
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val)
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu)
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala)
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu)
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly)
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)

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