ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00021
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00020
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00015
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382 0.00013
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn) rs371547661 0.00013
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799 0.00009
NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala) rs767250343 0.00009
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His) rs144820445 0.00006
NM_000088.4(COL1A1):c.2405G>A (p.Arg802His) rs556916354 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00005
NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys) rs781614679 0.00005
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly) rs746847841 0.00004
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser) rs147104425 0.00004
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys) rs760040029 0.00004
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) rs149820303 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000088.4(COL1A1):c.*20G>C rs199806909 0.00003
NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr) rs773343407 0.00003
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) rs780422688 0.00003
NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile) rs757175933 0.00003
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=) rs779002822 0.00003
NM_000088.4(COL1A1):c.3022C>T (p.Pro1008Ser) rs1199013401 0.00003
NM_000088.4(COL1A1):c.325G>C (p.Gly109Arg) rs762315953 0.00003
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser) rs751784955 0.00003
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys) rs373777457 0.00003
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile) rs1391247648 0.00003
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys) rs1341595487 0.00003
NM_000088.4(COL1A1):c.4141A>G (p.Thr1381Ala) rs756188663 0.00003
NM_000088.4(COL1A1):c.4307G>A (p.Arg1436His) rs149295671 0.00003
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn) rs761895918 0.00003
NM_000088.4(COL1A1):c.1155+6T>C rs1907508197 0.00002
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg) rs1407160641 0.00002
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu) rs755601552 0.00002
NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu) rs764989002 0.00002
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe) rs544922468 0.00002
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala) rs868525869 0.00002
NM_000088.4(COL1A1):c.2608C>G (p.Pro870Ala) rs771918127 0.00002
NM_000088.4(COL1A1):c.2729G>A (p.Arg910His) rs1014402681 0.00002
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) rs756337302 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307 0.00002
NM_000088.4(COL1A1):c.454C>A (p.Pro152Thr) rs1221734311 0.00002
NM_000088.4(COL1A1):c.696+6T>C rs747108049 0.00002
NM_000088.4(COL1A1):c.6C>T (p.Phe2=) rs776596093 0.00002
NM_000088.4(COL1A1):c.1072C>G (p.Gln358Glu) rs749024135 0.00001
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln) rs1253450294 0.00001
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys) rs758897245 0.00001
NM_000088.4(COL1A1):c.1153G>A (p.Ala385Thr) rs548048698 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1429C>G (p.Pro477Ala) rs1268011878 0.00001
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser) rs879355791 0.00001
NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr) rs752150906 0.00001
NM_000088.4(COL1A1):c.164C>A (p.Pro55His) rs771489142 0.00001
NM_000088.4(COL1A1):c.1673C>A (p.Pro558His) rs1434840230 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.1925T>A (p.Phe642Tyr) rs773957707 0.00001
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg) rs758395597 0.00001
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys) rs764826942 0.00001
NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu) rs760258050 0.00001
NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln) rs202221716 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.2235+4A>C rs1382593990 0.00001
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys) rs1459870410 0.00001
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu) rs748149807 0.00001
NM_000088.4(COL1A1):c.2522C>A (p.Pro841His) rs754774932 0.00001
NM_000088.4(COL1A1):c.2593C>T (p.Arg865Cys) rs1555572582 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val) rs1339193404 0.00001
NM_000088.4(COL1A1):c.2842A>G (p.Thr948Ala) rs371705356 0.00001
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu) rs747163212 0.00001
NM_000088.4(COL1A1):c.298+5G>T rs757231152 0.00001
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu) rs1484351533 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000088.4(COL1A1):c.3197G>A (p.Arg1066His) rs752075205 0.00001
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu) rs1437093924 0.00001
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) rs766461654 0.00001
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340 0.00001
NM_000088.4(COL1A1):c.3601C>T (p.Leu1201=) rs552379629 0.00001
NM_000088.4(COL1A1):c.3668T>A (p.Val1223Glu) rs1409382717 0.00001
NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly) rs1319157667 0.00001
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu) rs780472683 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser) rs570526849 0.00001
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133 0.00001
NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr) rs1339511647 0.00001
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=) rs759080989 0.00001
NM_000088.4(COL1A1):c.471+6T>C rs1276599083 0.00001
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val) rs372514953 0.00001
NM_000088.4(COL1A1):c.529G>A (p.Val177Met) rs537060488 0.00001
NM_000088.4(COL1A1):c.574C>G (p.Pro192Ala) rs1907764986 0.00001
NM_000088.4(COL1A1):c.61C>T (p.His21Tyr) rs777150332 0.00001
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser) rs1054020486 0.00001
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys) rs777644312 0.00001
NM_000088.4(COL1A1):c.96C>G (p.Asp32Glu) rs1293214060 0.00001
NM_000088.4(COL1A1):c.1002+5del
NM_000088.4(COL1A1):c.1002+6T>G rs2144579702
NM_000088.4(COL1A1):c.1007C>G (p.Pro336Arg)
NM_000088.4(COL1A1):c.1019C>T (p.Ala340Val) rs1412901667
NM_000088.4(COL1A1):c.103+5G>A rs1555575835
NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu) rs372658559
NM_000088.4(COL1A1):c.1054A>G (p.Lys352Glu)
NM_000088.4(COL1A1):c.1117C>T (p.Pro373Ser)
NM_000088.4(COL1A1):c.1123C>T (p.Pro375Ser) rs567855944
NM_000088.4(COL1A1):c.1126C>T (p.Pro376Ser) rs1907511278
NM_000088.4(COL1A1):c.1200+6T>C rs2144576638
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.124C>A (p.Gln42Lys) rs1223061614
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.4(COL1A1):c.1567C>G (p.Pro523Ala) rs764315746
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn) rs770596593
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1721G>T (p.Arg574Leu)
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.209G>A (p.Cys70Tyr) rs1221233834
NM_000088.4(COL1A1):c.2198G>A (p.Arg733His)
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr) rs764478745
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile) rs138749826
NM_000088.4(COL1A1):c.2382A>G (p.Gly794=) rs2144555296
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.4(COL1A1):c.2449C>G (p.Pro817Ala)
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2559+5G>A rs72653138
NM_000088.4(COL1A1):c.2599A>C (p.Ser867Arg) rs1906915002
NM_000088.4(COL1A1):c.2667+3_2667+6del rs1114167393
NM_000088.4(COL1A1):c.2693C>A (p.Pro898His)
NM_000088.4(COL1A1):c.2763A>G (p.Glu921=)
NM_000088.4(COL1A1):c.2788C>T (p.Pro930Ser)
NM_000088.4(COL1A1):c.2824C>T (p.Pro942Ser) rs2509183447
NM_000088.4(COL1A1):c.283_288dup (p.Pro96_Asp97insCysPro)
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg) rs1906850297
NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly) rs758351823
NM_000088.4(COL1A1):c.3045G>A (p.Glu1015=) rs2509179619
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser) rs762315953
NM_000088.4(COL1A1):c.3296C>G (p.Thr1099Arg)
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly) rs1555572101
NM_000088.4(COL1A1):c.3358C>T (p.Pro1120Ser) rs1906697025
NM_000088.4(COL1A1):c.3365C>G (p.Pro1122Arg) rs2509172493
NM_000088.4(COL1A1):c.3369+4A>G rs2144542173
NM_000088.4(COL1A1):c.3412G>T (p.Ala1138Ser) rs1064796592
NM_000088.4(COL1A1):c.3466A>C (p.Asn1156His)
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly) rs1907874708
NM_000088.4(COL1A1):c.3713T>A (p.Leu1238Gln) rs2144536626
NM_000088.4(COL1A1):c.3763C>T (p.Pro1255Ser)
NM_000088.4(COL1A1):c.376G>T (p.Ala126Ser) rs1424117367
NM_000088.4(COL1A1):c.3792G>A (p.Met1264Ile)
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) rs761672800
NM_000088.4(COL1A1):c.3898G>T (p.Val1300Leu) rs192986202
NM_000088.4(COL1A1):c.3960C>G (p.Asp1320Glu)
NM_000088.4(COL1A1):c.4019G>A (p.Gly1340Asp) rs1567751994
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val) rs1906478020
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) rs141011435
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln) rs141011435
NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn) rs2144532190
NM_000088.4(COL1A1):c.4118G>C (p.Ser1373Thr) rs2509156536
NM_000088.4(COL1A1):c.4189G>A (p.Glu1397Lys) rs902407269
NM_000088.4(COL1A1):c.4199C>A (p.Ala1400Asp) rs1598284064
NM_000088.4(COL1A1):c.4213C>A (p.Arg1405Ser) rs1279465588
NM_000088.4(COL1A1):c.4234G>A (p.Val1412Ile)
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.4(COL1A1):c.4274C>T (p.Thr1425Ile) rs2144530252
NM_000088.4(COL1A1):c.429CCCCGGACC[3] (p.143PPG[5]) rs769867566
NM_000088.4(COL1A1):c.4338C>G (p.Asp1446Glu) rs760246047
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg) rs1907850821
NM_000088.4(COL1A1):c.4361T>C (p.Phe1454Ser) rs2144529534
NM_000088.4(COL1A1):c.4364G>C (p.Gly1455Ala)
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr) rs756846639
NM_000088.4(COL1A1):c.436C>G (p.Pro146Ala) rs756846639
NM_000088.4(COL1A1):c.436C>T (p.Pro146Ser) rs756846639
NM_000088.4(COL1A1):c.440C>T (p.Pro147Leu)
NM_000088.4(COL1A1):c.467G>A (p.Gly156Glu)
NM_000088.4(COL1A1):c.471+5G>C rs1555575015
NM_000088.4(COL1A1):c.588+4A>G rs72667026
NM_000088.4(COL1A1):c.642+3A>T rs2509246570
NM_000088.4(COL1A1):c.646C>A (p.Pro216Thr) rs766891244
NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser) rs1273349782
NM_000088.4(COL1A1):c.98A>G (p.Glu33Gly)
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813

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