ClinVar Miner

List of variants reported as likely benign for FG syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 566
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_005120.3(MED12):c.4416-15T>C rs770290521 0.00031
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801 0.00019
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206 0.00019
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.3918C>T (p.Asp1306=) rs372389957 0.00012
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=) rs369268877 0.00010
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala) rs372326268 0.00010
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_005120.3(MED12):c.3692-11G>A rs773008879 0.00009
NM_005120.3(MED12):c.966T>C (p.Ala322=) rs370616416 0.00009
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 0.00008
NM_005120.3(MED12):c.1349-11T>C rs775255445 0.00008
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527 0.00008
NM_005120.3(MED12):c.6409-14C>A rs374791085 0.00007
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 0.00006
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594 0.00006
NM_005120.3(MED12):c.3692-12C>T rs1343656787 0.00006
NM_005120.3(MED12):c.4620G>T (p.Val1540=) rs756385578 0.00006
NM_005120.3(MED12):c.1323C>T (p.Phe441=) rs371928861 0.00005
NM_005120.3(MED12):c.2311A>G (p.Ile771Val) rs749158402 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005120.3(MED12):c.5301C>G (p.Pro1767=) rs1381304769 0.00005
NM_005120.3(MED12):c.6044+20G>T rs1022385883 0.00005
NM_005120.3(MED12):c.727A>C (p.Met243Leu) rs1569480971 0.00005
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln) rs760696164 0.00004
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358 0.00004
NM_005120.3(MED12):c.2136C>T (p.Pro712=) rs377207665 0.00004
NM_005120.3(MED12):c.255C>T (p.Thr85=) rs979820064 0.00004
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372 0.00004
NM_005120.3(MED12):c.4028G>A (p.Arg1343His) rs201044355 0.00004
NM_005120.3(MED12):c.4044C>T (p.Leu1348=) rs367674919 0.00004
NM_005120.3(MED12):c.4416-6C>T rs775717904 0.00004
NM_005120.3(MED12):c.5442G>C (p.Val1814=) rs773540568 0.00004
NM_005120.3(MED12):c.5826+7G>C rs374573886 0.00004
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln) rs750926172 0.00004
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val) rs750648216 0.00004
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_005120.3(MED12):c.1486-8T>C rs1202454929 0.00003
NM_005120.3(MED12):c.1659C>T (p.Ile553=) rs763388314 0.00003
NM_005120.3(MED12):c.2395C>T (p.Leu799=) rs1280842063 0.00003
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala) rs752847512 0.00003
NM_005120.3(MED12):c.2542-5A>G rs777247768 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.3333C>T (p.Asn1111=) rs781289776 0.00003
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln) rs1388327076 0.00003
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly) rs766827969 0.00003
NM_005120.3(MED12):c.4146C>T (p.Ile1382=) rs923552252 0.00003
NM_005120.3(MED12):c.4232G>A (p.Ser1411Asn) rs761320689 0.00003
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn) rs962560401 0.00003
NM_005120.3(MED12):c.5778T>C (p.Ser1926=) rs758530859 0.00003
NM_005120.3(MED12):c.6168A>G (p.Gln2056=) rs745565325 0.00003
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149 0.00003
NM_005120.3(MED12):c.6465C>T (p.Val2155=) rs764620745 0.00003
NM_005120.3(MED12):c.735+19T>C rs369585015 0.00003
NM_005120.3(MED12):c.927G>A (p.Leu309=) rs957824537 0.00003
NM_005120.3(MED12):c.1066C>A (p.Arg356=) rs763867883 0.00002
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.1344T>G (p.Thr448=) rs375202766 0.00002
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151 0.00002
NM_005120.3(MED12):c.204+7C>T rs776275934 0.00002
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.2172T>C (p.Val724=) rs187478018 0.00002
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179 0.00002
NM_005120.3(MED12):c.3516C>G (p.Thr1172=) rs1057521581 0.00002
NM_005120.3(MED12):c.3692-14C>T rs747228964 0.00002
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly) rs961569982 0.00002
NM_005120.3(MED12):c.4415+13A>C rs993419382 0.00002
NM_005120.3(MED12):c.4761C>T (p.Ser1587=) rs369563649 0.00002
NM_005120.3(MED12):c.5088G>A (p.Pro1696=) rs202167558 0.00002
NM_005120.3(MED12):c.5124C>A (p.Val1708=) rs775912778 0.00002
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057 0.00002
NM_005120.3(MED12):c.5343A>G (p.Glu1781=) rs750991975 0.00002
NM_005120.3(MED12):c.5427C>T (p.Ser1809=) rs772462354 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506 0.00002
NM_005120.3(MED12):c.5575C>T (p.Arg1859Cys) rs759956340 0.00002
NM_005120.3(MED12):c.5576G>A (p.Arg1859His) rs763700798 0.00002
NM_005120.3(MED12):c.5652C>T (p.Gly1884=) rs779068766 0.00002
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794 0.00002
NM_005120.3(MED12):c.5718C>T (p.Pro1906=) rs746436864 0.00002
NM_005120.3(MED12):c.5749-5T>A rs949727987 0.00002
NM_005120.3(MED12):c.5808C>T (p.Tyr1936=) rs757398839 0.00002
NM_005120.3(MED12):c.5991C>T (p.Gly1997=) rs780565385 0.00002
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556 0.00002
NM_005120.3(MED12):c.672T>C (p.His224=) rs1407401085 0.00002
NM_005120.3(MED12):c.735+15A>G rs202206536 0.00002
NM_005120.3(MED12):c.736-10G>A rs764384329 0.00002
NM_005120.3(MED12):c.736-4A>G rs371311763 0.00002
NM_005120.3(MED12):c.847-13C>T rs374744294 0.00002
NM_005120.3(MED12):c.931G>A (p.Gly311Ser) rs1477622307 0.00002
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile) rs774518546 0.00001
NM_005120.3(MED12):c.1098A>G (p.Leu366=) rs1325162892 0.00001
NM_005120.3(MED12):c.1102-9A>G rs1165300427 0.00001
NM_005120.3(MED12):c.1257A>C (p.Ala419=) rs754943978 0.00001
NM_005120.3(MED12):c.1269G>A (p.Glu423=) rs758467351 0.00001
NM_005120.3(MED12):c.1377T>A (p.Thr459=) rs764293738 0.00001
NM_005120.3(MED12):c.147T>A (p.Pro49=) rs774875020 0.00001
NM_005120.3(MED12):c.1485+14G>A rs1276319871 0.00001
NM_005120.3(MED12):c.1513T>A (p.Ser505Thr) rs763909049 0.00001
NM_005120.3(MED12):c.1545G>A (p.Lys515=) rs1602295964 0.00001
NM_005120.3(MED12):c.1556G>A (p.Arg519Gln) rs1323878836 0.00001
NM_005120.3(MED12):c.1599G>A (p.Gln533=) rs914308415 0.00001
NM_005120.3(MED12):c.1602G>A (p.Ala534=) rs1057523461 0.00001
NM_005120.3(MED12):c.1662C>T (p.Ala554=) rs1379633991 0.00001
NM_005120.3(MED12):c.1738A>G (p.Met580Val) rs576733100 0.00001
NM_005120.3(MED12):c.1744+14C>T rs1263378137 0.00001
NM_005120.3(MED12):c.1745-19C>T rs1057524262 0.00001
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln) rs747113641 0.00001
NM_005120.3(MED12):c.1773G>A (p.Val591=) rs1476863671 0.00001
NM_005120.3(MED12):c.1854C>T (p.Leu618=) rs775882680 0.00001
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln) rs199582086 0.00001
NM_005120.3(MED12):c.1975-7C>T rs762265257 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.2119G>A (p.Glu707Lys) rs768834535 0.00001
NM_005120.3(MED12):c.2169G>A (p.Gly723=) rs1060504497 0.00001
NM_005120.3(MED12):c.2232G>A (p.Glu744=) rs1012702212 0.00001
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457 0.00001
NM_005120.3(MED12):c.2535G>A (p.Thr845=) rs915335433 0.00001
NM_005120.3(MED12):c.2544C>A (p.Val848=) rs1204827056 0.00001
NM_005120.3(MED12):c.2631C>T (p.Phe877=) rs751190759 0.00001
NM_005120.3(MED12):c.2698C>T (p.Leu900=) rs1470081405 0.00001
NM_005120.3(MED12):c.2784T>G (p.Ala928=) rs1431106485 0.00001
NM_005120.3(MED12):c.2849+11C>G rs755525809 0.00001
NM_005120.3(MED12):c.2850-13C>T rs1199760146 0.00001
NM_005120.3(MED12):c.2859C>T (p.Gly953=) rs930308384 0.00001
NM_005120.3(MED12):c.2862C>T (p.Val954=) rs748251157 0.00001
NM_005120.3(MED12):c.2937C>T (p.Tyr979=) rs758935114 0.00001
NM_005120.3(MED12):c.2982-20C>T rs773211847 0.00001
NM_005120.3(MED12):c.3063C>T (p.Phe1021=) rs797045698 0.00001
NM_005120.3(MED12):c.3069C>T (p.Ile1023=) rs753751305 0.00001
NM_005120.3(MED12):c.3149G>A (p.Arg1050His) rs1228685555 0.00001
NM_005120.3(MED12):c.3192G>A (p.Gly1064=) rs932149153 0.00001
NM_005120.3(MED12):c.3201T>A (p.Asp1067Glu) rs758288118 0.00001
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318 0.00001
NM_005120.3(MED12):c.324A>G (p.Arg108=) rs772440501 0.00001
NM_005120.3(MED12):c.3288T>G (p.Leu1096=) rs1167877198 0.00001
NM_005120.3(MED12):c.33C>T (p.His11=) rs1018272698 0.00001
NM_005120.3(MED12):c.3408C>T (p.Ile1136=) rs756127182 0.00001
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785 0.00001
NM_005120.3(MED12):c.3849G>T (p.Leu1283=) rs377409217 0.00001
NM_005120.3(MED12):c.3864A>G (p.Gln1288=) rs370431544 0.00001
NM_005120.3(MED12):c.3957C>A (p.Arg1319=) rs368549870 0.00001
NM_005120.3(MED12):c.4047+14G>A rs774488297 0.00001
NM_005120.3(MED12):c.4120-11A>C rs773425479 0.00001
NM_005120.3(MED12):c.4120-4C>G rs1253682531 0.00001
NM_005120.3(MED12):c.4194A>G (p.Ser1398=) rs1319823223 0.00001
NM_005120.3(MED12):c.4197T>A (p.Ser1399=) rs1389363000 0.00001
NM_005120.3(MED12):c.4415+20G>A rs369776103 0.00001
NM_005120.3(MED12):c.4416-8G>T rs770256156 0.00001
NM_005120.3(MED12):c.4470A>G (p.Lys1490=) rs766138859 0.00001
NM_005120.3(MED12):c.4527+11C>G rs2092322513 0.00001
NM_005120.3(MED12):c.4527+19T>C rs2092322558 0.00001
NM_005120.3(MED12):c.4528-20T>G rs1266001762 0.00001
NM_005120.3(MED12):c.4599C>G (p.Leu1533=) rs2092323060 0.00001
NM_005120.3(MED12):c.4728-10C>T rs1230205688 0.00001
NM_005120.3(MED12):c.4743T>A (p.Thr1581=) rs1296958553 0.00001
NM_005120.3(MED12):c.477C>T (p.Leu159=) rs1304010114 0.00001
NM_005120.3(MED12):c.4827C>T (p.Asn1609=) rs779466860 0.00001
NM_005120.3(MED12):c.4863+19G>A rs1396684605 0.00001
NM_005120.3(MED12):c.4929G>A (p.Lys1643=) rs964113005 0.00001
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163 0.00001
NM_005120.3(MED12):c.4941T>C (p.Asp1647=) rs753148075 0.00001
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450 0.00001
NM_005120.3(MED12):c.5013C>T (p.Ile1671=) rs1569482185 0.00001
NM_005120.3(MED12):c.5026-12T>A rs1057520901 0.00001
NM_005120.3(MED12):c.5026-13T>C rs1338117954 0.00001
NM_005120.3(MED12):c.5058G>A (p.Ser1686=) rs1346436513 0.00001
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln) rs754537871 0.00001
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr) rs1042718707 0.00001
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918 0.00001
NM_005120.3(MED12):c.5453C>T (p.Pro1818Leu) rs761189421 0.00001
NM_005120.3(MED12):c.5469C>T (p.His1823=) rs1224259784 0.00001
NM_005120.3(MED12):c.554-13C>G rs1033217662 0.00001
NM_005120.3(MED12):c.5592A>G (p.Pro1864=) rs1392245437 0.00001
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val) rs1326683020 0.00001
NM_005120.3(MED12):c.5613A>C (p.Arg1871=) rs767241359 0.00001
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=) rs747217643 0.00001
NM_005120.3(MED12):c.5749-8C>T rs1385689270 0.00001
NM_005120.3(MED12):c.5862G>A (p.Gln1954=) rs1191896226 0.00001
NM_005120.3(MED12):c.5874C>T (p.Gly1958=) rs370235478 0.00001
NM_005120.3(MED12):c.5916T>C (p.Pro1972=) rs2092336480 0.00001
NM_005120.3(MED12):c.6044+16G>C rs367904425 0.00001
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile) rs755577187 0.00001
NM_005120.3(MED12):c.6145C>A (p.Pro2049Thr) rs756758050 0.00001
NM_005120.3(MED12):c.6165G>A (p.Gln2055=) rs2092345036 0.00001
NM_005120.3(MED12):c.6183A>G (p.Gln2061=) rs749041154 0.00001
NM_005120.3(MED12):c.621A>T (p.Pro207=) rs1467258035 0.00001
NM_005120.3(MED12):c.6267+20T>C rs1032542640 0.00001
NM_005120.3(MED12):c.6273G>A (p.Gln2091=) rs1556340048 0.00001
NM_005120.3(MED12):c.6312G>A (p.Gln2104=) rs1416010935 0.00001
NM_005120.3(MED12):c.6315A>G (p.Gln2105=) rs1343388487 0.00001
NM_005120.3(MED12):c.6327G>A (p.Gln2109=) rs1333460909 0.00001
NM_005120.3(MED12):c.6391C>G (p.Pro2131Ala) rs748914486 0.00001
NM_005120.3(MED12):c.6399C>G (p.Ser2133=) rs1321273556 0.00001
NM_005120.3(MED12):c.872C>A (p.Ala291Glu) rs754533515 0.00001
NM_005120.3(MED12):c.877C>T (p.Leu293=) rs764716429 0.00001
NM_005120.3(MED12):c.100-15_100-14delinsAA rs2147769578
NM_005120.3(MED12):c.100-19C>T rs930154299
NM_005120.3(MED12):c.1011A>G (p.Pro337=) rs749348331
NM_005120.3(MED12):c.1026C>T (p.Pro342=)
NM_005120.3(MED12):c.1029G>A (p.Ser343=)
NM_005120.3(MED12):c.1068G>T (p.Arg356=)
NM_005120.3(MED12):c.1077T>G (p.Val359=)
NM_005120.3(MED12):c.1101+14G>C
NM_005120.3(MED12):c.1101+16G>A
NM_005120.3(MED12):c.1101+19C>T
NM_005120.3(MED12):c.1102-14T>C
NM_005120.3(MED12):c.1102-20T>C rs2147781663
NM_005120.3(MED12):c.1197T>A (p.Ile399=)
NM_005120.3(MED12):c.1217T>C (p.Met406Thr)
NM_005120.3(MED12):c.1248+13A>G
NM_005120.3(MED12):c.1248+7C>G rs2147782206
NM_005120.3(MED12):c.1249-16C>T
NM_005120.3(MED12):c.1249-4G>T rs1272068008
NM_005120.3(MED12):c.1249-7A>G
NM_005120.3(MED12):c.1314C>T (p.Arg438=)
NM_005120.3(MED12):c.1348+14A>C rs937971791
NM_005120.3(MED12):c.135C>T (p.Phe45=) rs2147770770
NM_005120.3(MED12):c.1374T>C (p.His458=)
NM_005120.3(MED12):c.137A>G (p.Asn46Ser)
NM_005120.3(MED12):c.1416C>T (p.Asp472=) rs1569481100
NM_005120.3(MED12):c.1425C>T (p.Asn475=)
NM_005120.3(MED12):c.144G>A (p.Gln48=)
NM_005120.3(MED12):c.1476T>C (p.Asp492=) rs1602295711
NM_005120.3(MED12):c.1485+11A>G
NM_005120.3(MED12):c.1485+20G>C
NM_005120.3(MED12):c.1485+7G>A rs2092293131
NM_005120.3(MED12):c.1485+9A>G rs1602295737
NM_005120.3(MED12):c.1486-13C>T
NM_005120.3(MED12):c.1486-14C>T
NM_005120.3(MED12):c.1486-4C>A
NM_005120.3(MED12):c.1536C>T (p.Val512=) rs942361290
NM_005120.3(MED12):c.153C>T (p.Val51=)
NM_005120.3(MED12):c.1554T>A (p.Gly518=) rs2147786408
NM_005120.3(MED12):c.15G>C (p.Gly5=)
NM_005120.3(MED12):c.1614T>C (p.Ala538=)
NM_005120.3(MED12):c.1617+16T>A
NM_005120.3(MED12):c.1617+8G>T
NM_005120.3(MED12):c.1618-18_1618-15del rs1285811923
NM_005120.3(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.3(MED12):c.1684A>G (p.Ser562Gly)
NM_005120.3(MED12):c.1744+10C>T
NM_005120.3(MED12):c.1745-10C>T rs2147789290
NM_005120.3(MED12):c.1844C>T (p.Thr615Ile)
NM_005120.3(MED12):c.1875C>T (p.Ala625=)
NM_005120.3(MED12):c.1923C>G (p.Ala641=) rs754725206
NM_005120.3(MED12):c.1935G>A (p.Glu645=) rs376986062
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala)
NM_005120.3(MED12):c.1962C>T (p.Ser654=)
NM_005120.3(MED12):c.1974+7G>A
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe)
NM_005120.3(MED12):c.1986C>T (p.Leu662=)
NM_005120.3(MED12):c.204+12C>G
NM_005120.3(MED12):c.204+14G>C
NM_005120.3(MED12):c.204+9A>C
NM_005120.3(MED12):c.204+9A>G
NM_005120.3(MED12):c.205-17C>T
NM_005120.3(MED12):c.2055+18C>T
NM_005120.3(MED12):c.2055+20T>C
NM_005120.3(MED12):c.2056-16C>G
NM_005120.3(MED12):c.2091C>T (p.Gly697=)
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del) rs1261680398
NM_005120.3(MED12):c.2143A>G (p.Lys715Glu)
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
NM_005120.3(MED12):c.2193C>T (p.His731=)
NM_005120.3(MED12):c.2235A>G (p.Ser745=)
NM_005120.3(MED12):c.2247G>A (p.Glu749=)
NM_005120.3(MED12):c.2260T>C (p.Leu754=)
NM_005120.3(MED12):c.2271G>C (p.Leu757=)
NM_005120.3(MED12):c.2286G>A (p.Lys762=) rs1602297586
NM_005120.3(MED12):c.2325C>G (p.Thr775=) rs2147793224
NM_005120.3(MED12):c.232G>A (p.Ala78Thr)
NM_005120.3(MED12):c.2334C>T (p.Ile778=)
NM_005120.3(MED12):c.2371+13C>T
NM_005120.3(MED12):c.2371+7T>G
NM_005120.3(MED12):c.2372-10C>G rs752691764
NM_005120.3(MED12):c.2372-10C>T rs752691764
NM_005120.3(MED12):c.2372-8C>G
NM_005120.3(MED12):c.2372-8dup rs1457000276
NM_005120.3(MED12):c.2372-9C>A rs758698633
NM_005120.3(MED12):c.2372-9C>G rs758698633
NM_005120.3(MED12):c.2436G>A (p.Gly812=)
NM_005120.3(MED12):c.2451C>A (p.Arg817=) rs2147795617
NM_005120.3(MED12):c.2457G>A (p.Arg819=) rs2147795650
NM_005120.3(MED12):c.2466C>T (p.Ala822=) rs2147795665
NM_005120.3(MED12):c.2469C>T (p.Phe823=) rs2147795677
NM_005120.3(MED12):c.2478T>C (p.Ala826=) rs2147795724
NM_005120.3(MED12):c.2481A>G (p.Glu827=) rs2147795738
NM_005120.3(MED12):c.2535G>C (p.Thr845=) rs915335433
NM_005120.3(MED12):c.2541+13G>C rs2147795910
NM_005120.3(MED12):c.2542-19C>T
NM_005120.3(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.3(MED12):c.2616T>C (p.His872=)
NM_005120.3(MED12):c.2619G>A (p.Val873=) rs763140070
NM_005120.3(MED12):c.2622G>A (p.Gln874=)
NM_005120.3(MED12):c.2649A>G (p.Ser883=)
NM_005120.3(MED12):c.2652C>T (p.Leu884=)
NM_005120.3(MED12):c.2667C>T (p.Leu889=)
NM_005120.3(MED12):c.2670C>T (p.Ile890=) rs1602298322
NM_005120.3(MED12):c.2686-16C>A
NM_005120.3(MED12):c.2686-17C>G
NM_005120.3(MED12):c.2686-20A>T
NM_005120.3(MED12):c.2817C>T (p.Leu939=)
NM_005120.3(MED12):c.2823G>A (p.Gln941=)
NM_005120.3(MED12):c.2835A>G (p.Ala945=)
NM_005120.3(MED12):c.2849+15G>A
NM_005120.3(MED12):c.2850-16T>C
NM_005120.3(MED12):c.2850-7C>G rs1556336208
NM_005120.3(MED12):c.285A>G (p.Gln95=)
NM_005120.3(MED12):c.2871T>C (p.His957=) rs1602298730
NM_005120.3(MED12):c.2919T>C (p.Ala973=)
NM_005120.3(MED12):c.2940C>T (p.Thr980=)
NM_005120.3(MED12):c.2952T>C (p.His984=)
NM_005120.3(MED12):c.2964A>G (p.Lys988=) rs1346914696
NM_005120.3(MED12):c.2981+9G>C
NM_005120.3(MED12):c.300T>C (p.Asp100=) rs2147773351
NM_005120.3(MED12):c.3021C>T (p.Asn1007=)
NM_005120.3(MED12):c.3033G>A (p.Ser1011=)
NM_005120.3(MED12):c.3039A>C (p.Ser1013=)
NM_005120.3(MED12):c.3069C>A (p.Ile1023=) rs753751305
NM_005120.3(MED12):c.3105C>G (p.Thr1035=)
NM_005120.3(MED12):c.310C>T (p.Leu104=)
NM_005120.3(MED12):c.3129T>G (p.Leu1043=)
NM_005120.3(MED12):c.3156C>T (p.Ser1052=)
NM_005120.3(MED12):c.3195C>T (p.His1065=)
NM_005120.3(MED12):c.3210-18A>G
NM_005120.3(MED12):c.3210-20G>A rs1032124326
NM_005120.3(MED12):c.3210-7T>C
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)
NM_005120.3(MED12):c.3246C>G (p.Thr1082=)
NM_005120.3(MED12):c.327C>T (p.Ser109=)
NM_005120.3(MED12):c.3297G>A (p.Leu1099=)
NM_005120.3(MED12):c.3355-16_3355-13del rs1556336608
NM_005120.3(MED12):c.336C>T (p.Ala112=)
NM_005120.3(MED12):c.3381G>A (p.Ser1127=) rs369946933
NM_005120.3(MED12):c.3390T>G (p.Thr1130=)
NM_005120.3(MED12):c.3393T>C (p.Phe1131=)
NM_005120.3(MED12):c.3399C>T (p.Ala1133=) rs1042095169
NM_005120.3(MED12):c.3412C>A (p.Arg1138=) rs1057523906
NM_005120.3(MED12):c.3476-12T>C
NM_005120.3(MED12):c.3476-20C>G
NM_005120.3(MED12):c.3476-6T>A
NM_005120.3(MED12):c.3480T>C (p.Cys1160=) rs1463883892
NM_005120.3(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.3(MED12):c.3516C>A (p.Thr1172=) rs1057521581
NM_005120.3(MED12):c.3546A>G (p.Thr1182=)
NM_005120.3(MED12):c.3577+12T>C
NM_005120.3(MED12):c.3578-11G>A
NM_005120.3(MED12):c.3578-11G>T
NM_005120.3(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.3(MED12):c.3618C>T (p.His1206=)
NM_005120.3(MED12):c.3654A>G (p.Gly1218=)
NM_005120.3(MED12):c.3657C>T (p.Ala1219=)
NM_005120.3(MED12):c.3691+10T>C
NM_005120.3(MED12):c.3692-16C>T rs2147807080
NM_005120.3(MED12):c.3692-17C>T
NM_005120.3(MED12):c.3692-20C>T
NM_005120.3(MED12):c.3692-5C>T
NM_005120.3(MED12):c.3789G>C (p.Gln1263His)
NM_005120.3(MED12):c.378C>T (p.Leu126=)
NM_005120.3(MED12):c.3797_3798delinsAT (p.Arg1266His) rs2147807577
NM_005120.3(MED12):c.3800A>G (p.Asn1267Ser)
NM_005120.3(MED12):c.3802A>G (p.Ile1268Val)
NM_005120.3(MED12):c.3807T>C (p.Ser1269=) rs1319771105
NM_005120.3(MED12):c.3823C>T (p.Leu1275=)
NM_005120.3(MED12):c.3861C>T (p.Cys1287=)
NM_005120.3(MED12):c.3867+10_3867+11del rs2147807790
NM_005120.3(MED12):c.3934T>C (p.Leu1312=) rs1406760316
NM_005120.3(MED12):c.3951G>A (p.Ala1317=)
NM_005120.3(MED12):c.3951G>T (p.Ala1317=) rs755194632
NM_005120.3(MED12):c.3960C>T (p.Leu1320=)
NM_005120.3(MED12):c.397-7C>T rs2092285587
NM_005120.3(MED12):c.397-8C>T
NM_005120.3(MED12):c.399C>A (p.Val133=) rs754050535
NM_005120.3(MED12):c.4047+13C>T
NM_005120.3(MED12):c.4047+20G>A
NM_005120.3(MED12):c.4048-11C>G
NM_005120.3(MED12):c.4048-11dup rs1213691583
NM_005120.3(MED12):c.4048-20G>T
NM_005120.3(MED12):c.4074G>A (p.Gln1358=) rs2147811874
NM_005120.3(MED12):c.4080C>T (p.Ser1360=) rs2147811888
NM_005120.3(MED12):c.4087C>T (p.Leu1363=)
NM_005120.3(MED12):c.4116C>T (p.Asn1372=)
NM_005120.3(MED12):c.4120-17C>A
NM_005120.3(MED12):c.4120-5C>T rs2147813260
NM_005120.3(MED12):c.4120-7T>A
NM_005120.3(MED12):c.4120-7T>C rs2147813240
NM_005120.3(MED12):c.4245T>C (p.Pro1415=) rs2147813683
NM_005120.3(MED12):c.4254-11_4254-8del
NM_005120.3(MED12):c.4260A>G (p.Leu1420=) rs34299769
NM_005120.3(MED12):c.4290C>T (p.Pro1430=) rs2147814427
NM_005120.3(MED12):c.4415+11T>A
NM_005120.3(MED12):c.4415+9G>A
NM_005120.3(MED12):c.4416-13C>T
NM_005120.3(MED12):c.4416-16_4416-15insC
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC rs58328145
NM_005120.3(MED12):c.4416-20C>T
NM_005120.3(MED12):c.4416-42_4416-9del
NM_005120.3(MED12):c.4416-7T>A
NM_005120.3(MED12):c.4488C>A (p.Arg1496=)
NM_005120.3(MED12):c.4491G>A (p.Glu1497=)
NM_005120.3(MED12):c.4509C>T (p.Leu1503=) rs2147817069
NM_005120.3(MED12):c.4512C>T (p.Tyr1504=) rs2092322482
NM_005120.3(MED12):c.4527+14G>A
NM_005120.3(MED12):c.4527+16C>T
NM_005120.3(MED12):c.4527+18A>T
NM_005120.3(MED12):c.4543C>A (p.Arg1515=)
NM_005120.3(MED12):c.4584T>C (p.Leu1528=) rs1220815401
NM_005120.3(MED12):c.4593G>A (p.Glu1531=)
NM_005120.3(MED12):c.4617+13G>C
NM_005120.3(MED12):c.4618-13G>T
NM_005120.3(MED12):c.4618-19C>T
NM_005120.3(MED12):c.4618-7C>T
NM_005120.3(MED12):c.4623G>A (p.Gly1541=)
NM_005120.3(MED12):c.4662C>A (p.Thr1554=)
NM_005120.3(MED12):c.46C>A (p.Arg16=)
NM_005120.3(MED12):c.4701C>T (p.Ser1567=)
NM_005120.3(MED12):c.4727+18G>A
NM_005120.3(MED12):c.4728-6T>A
NM_005120.3(MED12):c.4728-9C>T
NM_005120.3(MED12):c.4764G>A (p.Val1588=)
NM_005120.3(MED12):c.4779A>G (p.Thr1593=)
NM_005120.3(MED12):c.4806G>C (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.4863+7A>G rs2147822616
NM_005120.3(MED12):c.4864-12del
NM_005120.3(MED12):c.489C>A (p.Thr163=)
NM_005120.3(MED12):c.4902G>A (p.Lys1634=)
NM_005120.3(MED12):c.4914G>A (p.Leu1638=) rs2092328932
NM_005120.3(MED12):c.4980C>T (p.Thr1660=) rs2147823550
NM_005120.3(MED12):c.4995T>C (p.Ile1665=)
NM_005120.3(MED12):c.5025+10A>G
NM_005120.3(MED12):c.5025+11T>C
NM_005120.3(MED12):c.5026-4G>T
NM_005120.3(MED12):c.5088G>T (p.Pro1696=)
NM_005120.3(MED12):c.5142G>A (p.Val1714=) rs2147826171
NM_005120.3(MED12):c.5172G>C (p.Leu1724=) rs1602304398
NM_005120.3(MED12):c.5184A>G (p.Thr1728=)
NM_005120.3(MED12):c.5205C>G (p.Arg1735=) rs747836622
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5253G>C (p.Pro1751=)
NM_005120.3(MED12):c.5268G>T (p.Leu1756=) rs1375174608
NM_005120.3(MED12):c.5295G>C (p.Glu1765Asp)
NM_005120.3(MED12):c.5349G>A (p.Lys1783=)
NM_005120.3(MED12):c.5370G>A (p.Lys1790=)
NM_005120.3(MED12):c.5379C>T (p.Ser1793=)
NM_005120.3(MED12):c.5400+11C>T
NM_005120.3(MED12):c.5400+15C>T rs1157498636
NM_005120.3(MED12):c.5400+16G>A
NM_005120.3(MED12):c.5400+9C>T
NM_005120.3(MED12):c.543C>T (p.Asp181=)
NM_005120.3(MED12):c.5485A>G (p.Ile1829Val)
NM_005120.3(MED12):c.553+13T>C rs2147774701
NM_005120.3(MED12):c.553+17dup
NM_005120.3(MED12):c.553+9C>T rs1602294060
NM_005120.3(MED12):c.5552-20C>T
NM_005120.3(MED12):c.5552-4T>A rs2147828853
NM_005120.3(MED12):c.5580T>A (p.Pro1860=)
NM_005120.3(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5670C>T (p.Pro1890=) rs2147829327
NM_005120.3(MED12):c.567C>T (p.Ile189=)
NM_005120.3(MED12):c.5728C>A (p.Arg1910Ser)
NM_005120.3(MED12):c.5745C>G (p.Leu1915=)
NM_005120.3(MED12):c.5749-11T>G
NM_005120.3(MED12):c.5749-17C>T
NM_005120.3(MED12):c.5749-20G>T
NM_005120.3(MED12):c.5754T>C (p.Ser1918=) rs1602305150
NM_005120.3(MED12):c.5760C>T (p.Gly1920=) rs1437807483
NM_005120.3(MED12):c.579C>T (p.Tyr193=)
NM_005120.3(MED12):c.5826+8C>T rs2147830320
NM_005120.3(MED12):c.5827-15C>G rs1234497074
NM_005120.3(MED12):c.5841T>C (p.Tyr1947=)
NM_005120.3(MED12):c.5904C>T (p.Tyr1968=) rs2092336448
NM_005120.3(MED12):c.5928C>T (p.Thr1976=) rs2147830882
NM_005120.3(MED12):c.5978A>C (p.Gln1993Pro)
NM_005120.3(MED12):c.6024T>C (p.His2008=)
NM_005120.3(MED12):c.6044+15G>C rs2147831315
NM_005120.3(MED12):c.6045-10A>G
NM_005120.3(MED12):c.6045-13C>G
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu) rs2092344632
NM_005120.3(MED12):c.6048T>C (p.Phe2016=)
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)
NM_005120.3(MED12):c.6078G>T (p.Met2026Ile)
NM_005120.3(MED12):c.60G>A (p.Gly20=)
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
NM_005120.3(MED12):c.6111C>T (p.Gly2037=)
NM_005120.3(MED12):c.6114C>T (p.Val2038=)
NM_005120.3(MED12):c.6123C>T (p.Gly2041=)
NM_005120.3(MED12):c.6138C>T (p.Ala2046=) rs2147838956
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del) rs762261992
NM_005120.3(MED12):c.6165GCAACAGCA[3] (p.Gln2074_Gln2076dup) rs762261992
NM_005120.3(MED12):c.6177A>G (p.Gln2059=) rs775267316
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup) rs754533796
NM_005120.3(MED12):c.6191_6192insACAGCAACA (p.Gln2074_Gln2076dup) rs752416697
NM_005120.3(MED12):c.6195G>A (p.Gln2065=) rs1001762438
NM_005120.3(MED12):c.6198G>A (p.Gln2066=)
NM_005120.3(MED12):c.6201ACAGCA[3] (p.Gln2075_Gln2076dup) rs758203078
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6207A>G (p.Gln2069=)
NM_005120.3(MED12):c.6208CAG[10] (p.Gln2074_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6210G>A (p.Gln2070=) rs1229904793
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6264G>A (p.Leu2088=)
NM_005120.3(MED12):c.6268-17C>G
NM_005120.3(MED12):c.6268-7C>G
NM_005120.3(MED12):c.6268-7del rs2147841483
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.3(MED12):c.629C>T (p.Ala210Val)
NM_005120.3(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.3(MED12):c.6303G>A (p.Gln2101=) rs1490399010
NM_005120.3(MED12):c.6306G>A (p.Gln2102=)
NM_005120.3(MED12):c.6321G>A (p.Gln2107=) rs778103349
NM_005120.3(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.3(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.3(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.3(MED12):c.6360G>A (p.Gln2120=) rs779631682
NM_005120.3(MED12):c.6372G>A (p.Ala2124=)
NM_005120.3(MED12):c.6384A>G (p.Gln2128=) rs1569482811
NM_005120.3(MED12):c.6393C>G (p.Pro2131=) rs2147842475
NM_005120.3(MED12):c.6408+19C>T
NM_005120.3(MED12):c.6408+9_6408+12del
NM_005120.3(MED12):c.6409-12A>G
NM_005120.3(MED12):c.6409-14C>G
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
NM_005120.3(MED12):c.6435C>T (p.Thr2145=)
NM_005120.3(MED12):c.6477A>G (p.Gln2159=)
NM_005120.3(MED12):c.6490+10C>T
NM_005120.3(MED12):c.6495C>A (p.Thr2165=) rs2147845582
NM_005120.3(MED12):c.6502C>A (p.Gln2168Lys)
NM_005120.3(MED12):c.6527G>A (p.Arg2176His)
NM_005120.3(MED12):c.669C>G (p.Pro223=) rs2092288251
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
NM_005120.3(MED12):c.6G>T (p.Ala2=)
NM_005120.3(MED12):c.705C>T (p.Tyr235=) rs2147777898
NM_005120.3(MED12):c.708C>G (p.Thr236=) rs34668206
NM_005120.3(MED12):c.726C>T (p.Phe242=)
NM_005120.3(MED12):c.772G>T (p.Val258Leu)
NM_005120.3(MED12):c.789G>A (p.Glu263=)
NM_005120.3(MED12):c.795C>T (p.Ile265=)
NM_005120.3(MED12):c.82G>A (p.Asp28Asn)
NM_005120.3(MED12):c.831G>A (p.Leu277=) rs2092289079
NM_005120.3(MED12):c.846+10G>A
NM_005120.3(MED12):c.846+20T>C
NM_005120.3(MED12):c.847-12G>A
NM_005120.3(MED12):c.876C>T (p.Tyr292=)
NM_005120.3(MED12):c.903T>C (p.Cys301=)
NM_005120.3(MED12):c.913C>T (p.Leu305=)
NM_005120.3(MED12):c.945C>T (p.His315=)
NM_005120.3(MED12):c.96G>A (p.Lys32=) rs2147767218
NM_005120.3(MED12):c.982C>T (p.Leu328=)
NM_005120.3(MED12):c.99+9G>A
NM_005120.3(MED12):c.993C>T (p.Thr331=)
NM_005120.3(MED12):c.998C>T (p.Ala333Val)

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