ClinVar Miner

List of variants in gene MED25 reported as likely benign for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_030973.4(MED25):c.354C>T (p.Leu118=) rs145574885 0.00110
NM_030973.4(MED25):c.151C>T (p.Pro51Ser) rs147869920 0.00104
NM_030973.4(MED25):c.638T>C (p.Val213Ala) rs144892223 0.00081
NM_030973.4(MED25):c.689-3C>T rs199623358 0.00047
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_030973.4(MED25):c.1231-8C>T rs200594031 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_030973.4(MED25):c.134+20C>T rs372600662 0.00022
NM_030973.4(MED25):c.1002C>T (p.Gly334=) rs142842628 0.00021
NM_030973.4(MED25):c.1095G>A (p.Pro365=) rs373128874 0.00017
NM_030973.4(MED25):c.306-10del rs772259172 0.00015
NM_030973.4(MED25):c.1747-19_1747-18del rs752695799 0.00014
NM_030973.4(MED25):c.1533C>T (p.Leu511=) rs376038328 0.00013
NM_030973.4(MED25):c.305+17T>G rs763308680 0.00013
NM_030973.4(MED25):c.689T>C (p.Val230Ala) rs199982073 0.00011
NM_030973.4(MED25):c.1377C>T (p.Thr459=) rs374928221 0.00010
NM_030973.4(MED25):c.2181G>A (p.Pro727=) rs775431728 0.00010
NM_030973.4(MED25):c.181-13C>T rs377070498 0.00009
NM_030973.4(MED25):c.1906C>A (p.Arg636=) rs761434818 0.00009
NM_030973.4(MED25):c.819+15G>A rs772300740 0.00009
NM_030973.4(MED25):c.942C>T (p.Pro314=) rs373971747 0.00009
NM_030973.4(MED25):c.1227A>G (p.Gln409=) rs769851706 0.00007
NM_030973.4(MED25):c.2146+12C>T rs778556242 0.00007
NM_030973.4(MED25):c.570G>C (p.Ala190=) rs759800230 0.00007
NM_030973.4(MED25):c.825C>T (p.Pro275=) rs771874021 0.00007
NM_030973.4(MED25):c.1038G>T (p.Leu346=) rs759964732 0.00006
NM_030973.4(MED25):c.1675-6G>A rs374698299 0.00006
NM_030973.4(MED25):c.1746+17C>T rs376067132 0.00006
NM_030973.4(MED25):c.843T>C (p.Ala281=) rs765788595 0.00006
NM_030973.4(MED25):c.1572C>T (p.Gly524=) rs559482732 0.00005
NM_030973.4(MED25):c.1785C>T (p.Thr595=) rs530025381 0.00005
NM_030973.4(MED25):c.2146+17G>T rs561588731 0.00005
NM_030973.4(MED25):c.1335C>T (p.Pro445=) rs372191174 0.00004
NM_030973.4(MED25):c.1605C>T (p.Asn535=) rs922801210 0.00004
NM_030973.4(MED25):c.1966-12G>C rs754403001 0.00004
NM_030973.4(MED25):c.1989C>T (p.Pro663=) rs762594410 0.00004
NM_030973.4(MED25):c.2046G>A (p.Pro682=) rs755620011 0.00004
NM_030973.4(MED25):c.2071T>C (p.Leu691=) rs75970529 0.00004
NM_030973.4(MED25):c.2147-16C>T rs569169080 0.00004
NM_030973.4(MED25):c.306-9C>T rs1458825800 0.00004
NM_030973.4(MED25):c.342C>T (p.Ile114=) rs367931150 0.00004
NM_030973.4(MED25):c.689-11C>T rs767365955 0.00004
NM_030973.4(MED25):c.810G>A (p.Pro270=) rs369512125 0.00004
NM_030973.4(MED25):c.855G>A (p.Ala285=) rs374949762 0.00004
NM_030973.4(MED25):c.1167C>T (p.Leu389=) rs992676211 0.00003
NM_030973.4(MED25):c.1593C>T (p.Ser531=) rs774774157 0.00003
NM_030973.4(MED25):c.1747-13C>G rs372428025 0.00003
NM_030973.4(MED25):c.1764G>A (p.Pro588=) rs758729127 0.00003
NM_030973.4(MED25):c.1998C>T (p.Ser666=) rs774172228 0.00003
NM_030973.4(MED25):c.2147-8C>T rs754555048 0.00003
NM_030973.4(MED25):c.2193G>A (p.Pro731=) rs374361800 0.00003
NM_030973.4(MED25):c.600C>T (p.Pro200=) rs753910880 0.00003
NM_030973.4(MED25):c.678C>T (p.Leu226=) rs770604129 0.00003
NM_030973.4(MED25):c.688+16C>T rs536606686 0.00003
NM_030973.4(MED25):c.771C>T (p.Leu257=) rs201142674 0.00003
NM_030973.4(MED25):c.1102-10C>T rs775817056 0.00002
NM_030973.4(MED25):c.1212G>A (p.Gly404=) rs781693362 0.00002
NM_030973.4(MED25):c.1278A>T (p.Ser426=) rs1235405156 0.00002
NM_030973.4(MED25):c.135-14T>C rs765934196 0.00002
NM_030973.4(MED25):c.180+17C>G rs770514045 0.00002
NM_030973.4(MED25):c.181-7C>T rs1640511 0.00002
NM_030973.4(MED25):c.1950C>T (p.Leu650=) rs749309483 0.00002
NM_030973.4(MED25):c.2163C>T (p.Ser721=) rs749606105 0.00002
NM_030973.4(MED25):c.315C>T (p.Gly105=) rs1441161522 0.00002
NM_030973.4(MED25):c.405-6T>C rs1053967709 0.00002
NM_030973.4(MED25):c.618G>A (p.Pro206=) rs772693264 0.00002
NM_030973.4(MED25):c.688+8C>T rs201112045 0.00002
NM_030973.4(MED25):c.747C>T (p.Pro249=) rs111621037 0.00002
NM_030973.4(MED25):c.81C>T (p.Asn27=) rs761471079 0.00002
NM_030973.4(MED25):c.852C>T (p.Ala284=) rs200117024 0.00002
NM_030973.4(MED25):c.1047T>C (p.Thr349=) rs1256377019 0.00001
NM_030973.4(MED25):c.1053C>G (p.Ala351=) rs760698791 0.00001
NM_030973.4(MED25):c.1080A>C (p.Ala360=) rs1378976996 0.00001
NM_030973.4(MED25):c.1086C>T (p.Pro362=) rs780086993 0.00001
NM_030973.4(MED25):c.1102-9C>T rs747438443 0.00001
NM_030973.4(MED25):c.1170T>A (p.Gly390=) rs755612050 0.00001
NM_030973.4(MED25):c.1209C>T (p.Ser403=) rs954895925 0.00001
NM_030973.4(MED25):c.1230+7G>T rs1412475364 0.00001
NM_030973.4(MED25):c.135-4A>G rs765245928 0.00001
NM_030973.4(MED25):c.135-9C>T rs764466098 0.00001
NM_030973.4(MED25):c.1374+10G>A rs768381941 0.00001
NM_030973.4(MED25):c.1375-20G>A rs755187047 0.00001
NM_030973.4(MED25):c.1375-4G>A rs372057910 0.00001
NM_030973.4(MED25):c.1375-5C>T rs368189393 0.00001
NM_030973.4(MED25):c.1437C>T (p.Asp479=) rs1484444238 0.00001
NM_030973.4(MED25):c.1476C>T (p.Asn492=) rs750836603 0.00001
NM_030973.4(MED25):c.1527C>T (p.Arg509=) rs756350936 0.00001
NM_030973.4(MED25):c.1584C>T (p.Tyr528=) rs776192919 0.00001
NM_030973.4(MED25):c.1675-18C>T rs2074089100 0.00001
NM_030973.4(MED25):c.1675-4G>A rs1202670954 0.00001
NM_030973.4(MED25):c.1746+10G>A rs777447509 0.00001
NM_030973.4(MED25):c.1747-15G>C rs1253524565 0.00001
NM_030973.4(MED25):c.1824A>G (p.Gln608=) rs756851712 0.00001
NM_030973.4(MED25):c.1899C>T (p.Pro633=) rs1225715903 0.00001
NM_030973.4(MED25):c.189G>T (p.Gly63=) rs770307133 0.00001
NM_030973.4(MED25):c.1959A>G (p.Pro653=) rs757384751 0.00001
NM_030973.4(MED25):c.1968G>A (p.Pro656=) rs370950491 0.00001
NM_030973.4(MED25):c.1971G>A (p.Gln657=) rs746754098 0.00001
NM_030973.4(MED25):c.2043G>A (p.Pro681=) rs762374581 0.00001
NM_030973.4(MED25):c.2115C>T (p.Pro705=) rs542955462 0.00001
NM_030973.4(MED25):c.213C>T (p.Phe71=) rs745454610 0.00001
NM_030973.4(MED25):c.2226C>T (p.Ile742=) rs921978271 0.00001
NM_030973.4(MED25):c.255C>T (p.His85=) rs1009581878 0.00001
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe) rs549136898 0.00001
NM_030973.4(MED25):c.339C>T (p.Leu113=) rs772212895 0.00001
NM_030973.4(MED25):c.384C>T (p.Phe128=) rs1204577575 0.00001
NM_030973.4(MED25):c.432C>A (p.Leu144=) rs150534771 0.00001
NM_030973.4(MED25):c.447C>T (p.Pro149=) rs543246660 0.00001
NM_030973.4(MED25):c.456G>A (p.Leu152=) rs1457594431 0.00001
NM_030973.4(MED25):c.480G>A (p.Thr160=) rs753591952 0.00001
NM_030973.4(MED25):c.526-16G>A rs756139455 0.00001
NM_030973.4(MED25):c.526-4A>G rs1302269788 0.00001
NM_030973.4(MED25):c.651G>A (p.Pro217=) rs532875863 0.00001
NM_030973.4(MED25):c.688+20C>T rs763013887 0.00001
NM_030973.4(MED25):c.801C>T (p.Pro267=) rs779737748 0.00001
NM_030973.4(MED25):c.820-14C>G rs1252422114 0.00001
NM_030973.4(MED25):c.908-17C>T rs778037401 0.00001
NM_030973.4(MED25):c.912G>A (p.Ser304=) rs1407395842 0.00001
NM_030973.4(MED25):c.954C>T (p.Pro318=) rs554447029 0.00001
NM_030973.4(MED25):c.9C>T (p.Pro3=) rs1362017240 0.00001
NM_030973.4(MED25):c.1014A>G (p.Pro338=) rs1034116832
NM_030973.4(MED25):c.1026C>G (p.Ser342=) rs1600325797
NM_030973.4(MED25):c.102G>A (p.Gly34=) rs755369870
NM_030973.4(MED25):c.102G>T (p.Gly34=) rs755369870
NM_030973.4(MED25):c.1038G>A (p.Leu346=)
NM_030973.4(MED25):c.1041C>T (p.Val347=) rs1555802298
NM_030973.4(MED25):c.105C>G (p.Leu35=)
NM_030973.4(MED25):c.105C>T (p.Leu35=)
NM_030973.4(MED25):c.1065C>A (p.Gly355=) rs779070350
NM_030973.4(MED25):c.1068G>A (p.Leu356=) rs2074050942
NM_030973.4(MED25):c.1077G>A (p.Thr359=)
NM_030973.4(MED25):c.1101+14C>T
NM_030973.4(MED25):c.1101+15G>A
NM_030973.4(MED25):c.1101+8C>T
NM_030973.4(MED25):c.1102-13T>G
NM_030973.4(MED25):c.1102-14C>T rs748971798
NM_030973.4(MED25):c.1102-4G>T
NM_030973.4(MED25):c.1107C>T (p.Gly369=) rs1450112631
NM_030973.4(MED25):c.1116C>G (p.Ala372=)
NM_030973.4(MED25):c.1128G>A (p.Val376=)
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
NM_030973.4(MED25):c.114C>T (p.His38=) rs2073954243
NM_030973.4(MED25):c.1176G>A (p.Gln392=)
NM_030973.4(MED25):c.1188C>T (p.Ser396=)
NM_030973.4(MED25):c.1198C>T (p.Leu400=) rs778576788
NM_030973.4(MED25):c.1203C>T (p.Ala401=) rs1322031888
NM_030973.4(MED25):c.1230+11dup
NM_030973.4(MED25):c.1230+12G>C
NM_030973.4(MED25):c.1230+20A>G
NM_030973.4(MED25):c.1230+7G>A
NM_030973.4(MED25):c.1231-16C>T
NM_030973.4(MED25):c.1231-20T>G
NM_030973.4(MED25):c.123C>G (p.Leu41=)
NM_030973.4(MED25):c.123C>T (p.Leu41=)
NM_030973.4(MED25):c.1263C>G (p.Thr421=)
NM_030973.4(MED25):c.1272G>A (p.Thr424=)
NM_030973.4(MED25):c.1275G>A (p.Arg425=)
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
NM_030973.4(MED25):c.1323G>A (p.Thr441=)
NM_030973.4(MED25):c.134+14C>T
NM_030973.4(MED25):c.134+15C>T
NM_030973.4(MED25):c.134+17C>T
NM_030973.4(MED25):c.134+8C>T rs2123860485
NM_030973.4(MED25):c.135-11T>C
NM_030973.4(MED25):c.135-12C>G
NM_030973.4(MED25):c.135-12C>T
NM_030973.4(MED25):c.135-15T>C
NM_030973.4(MED25):c.135-15T>G rs1256237742
NM_030973.4(MED25):c.135-17A>G
NM_030973.4(MED25):c.135-5C>T rs758925407
NM_030973.4(MED25):c.1359C>T (p.Ile453=)
NM_030973.4(MED25):c.1374+18G>A
NM_030973.4(MED25):c.1375-10T>A
NM_030973.4(MED25):c.1375-15C>T
NM_030973.4(MED25):c.1375-16T>C
NM_030973.4(MED25):c.1375-5dup
NM_030973.4(MED25):c.1375-7C>T rs2123882866
NM_030973.4(MED25):c.1377C>A (p.Thr459=)
NM_030973.4(MED25):c.138T>C (p.Tyr46=) rs758573961
NM_030973.4(MED25):c.1395C>T (p.Phe465=)
NM_030973.4(MED25):c.1416G>A (p.Gln472=)
NM_030973.4(MED25):c.1482+12G>A
NM_030973.4(MED25):c.1482+14A>G
NM_030973.4(MED25):c.1482+16G>A
NM_030973.4(MED25):c.1482+9A>G rs2123883050
NM_030973.4(MED25):c.1483-13G>A rs886054581
NM_030973.4(MED25):c.1491C>T (p.Cys497=)
NM_030973.4(MED25):c.1497C>T (p.His499=) rs2074084856
NM_030973.4(MED25):c.1512G>A (p.Ala504=)
NM_030973.4(MED25):c.1521G>A (p.Glu507=)
NM_030973.4(MED25):c.1527C>G (p.Arg509=)
NM_030973.4(MED25):c.1548G>A (p.Ser516=)
NM_030973.4(MED25):c.1548G>C (p.Ser516=) rs370402922
NM_030973.4(MED25):c.1599C>T (p.Phe533=)
NM_030973.4(MED25):c.15C>T (p.Ser5=) rs1568617655
NM_030973.4(MED25):c.1602C>T (p.Val534=)
NM_030973.4(MED25):c.1674+17C>T
NM_030973.4(MED25):c.1674+19C>G rs752522
NM_030973.4(MED25):c.1674+8T>A
NM_030973.4(MED25):c.1686G>A (p.Gln562=)
NM_030973.4(MED25):c.1692A>T (p.Ala564=)
NM_030973.4(MED25):c.1702C>T (p.Leu568=)
NM_030973.4(MED25):c.1704G>A (p.Leu568=) rs1222662917
NM_030973.4(MED25):c.1722C>T (p.Asp574=)
NM_030973.4(MED25):c.1731G>A (p.Arg577=)
NM_030973.4(MED25):c.1734C>T (p.Pro578=) rs2074090173
NM_030973.4(MED25):c.1746+18G>A
NM_030973.4(MED25):c.1746+20G>A rs2123887846
NM_030973.4(MED25):c.1746+9A>G rs1600330946
NM_030973.4(MED25):c.1747-14dup
NM_030973.4(MED25):c.1747-18T>C rs759379519
NM_030973.4(MED25):c.1747-18del
NM_030973.4(MED25):c.1747-20C>T
NM_030973.4(MED25):c.1749C>A (p.Leu583=)
NM_030973.4(MED25):c.174G>A (p.Gly58=) rs773338897
NM_030973.4(MED25):c.1755C>G (p.Leu585=) rs1004381819
NM_030973.4(MED25):c.1761A>T (p.Pro587=) rs1568625500
NM_030973.4(MED25):c.1788A>G (p.Val596=)
NM_030973.4(MED25):c.1806G>A (p.Thr602=)
NM_030973.4(MED25):c.181-14T>C
NM_030973.4(MED25):c.181-17C>G
NM_030973.4(MED25):c.181-20T>C
NM_030973.4(MED25):c.181-4C>T rs2123862076
NM_030973.4(MED25):c.181-8C>T
NM_030973.4(MED25):c.181-9C>T
NM_030973.4(MED25):c.1830T>G (p.Thr610=)
NM_030973.4(MED25):c.1833C>G (p.Ala611=)
NM_030973.4(MED25):c.1842G>A (p.Pro614=)
NM_030973.4(MED25):c.1842G>C (p.Pro614=) rs368884119
NM_030973.4(MED25):c.1857A>G (p.Gln619=)
NM_030973.4(MED25):c.186G>C (p.Gly62=)
NM_030973.4(MED25):c.1875T>A (p.Ala625=)
NM_030973.4(MED25):c.189G>A (p.Gly63=)
NM_030973.4(MED25):c.1902C>T (p.Ile634=)
NM_030973.4(MED25):c.1911C>T (p.Pro637=)
NM_030973.4(MED25):c.1920T>C (p.Pro640=) rs1600331507
NM_030973.4(MED25):c.192C>A (p.Thr64=)
NM_030973.4(MED25):c.1953C>T (p.Leu651=) rs2123888595
NM_030973.4(MED25):c.1965+14G>T
NM_030973.4(MED25):c.1965+16G>C rs1005068403
NM_030973.4(MED25):c.1965+16G>T
NM_030973.4(MED25):c.1966-10_1966-9del rs778581967
NM_030973.4(MED25):c.1966-15T>C
NM_030973.4(MED25):c.1966-18CT[2]
NM_030973.4(MED25):c.1966-5C>G
NM_030973.4(MED25):c.1983C>T (p.Pro661=)
NM_030973.4(MED25):c.2037G>A (p.Leu679=) rs2074097615
NM_030973.4(MED25):c.2055C>T (p.Gly685=)
NM_030973.4(MED25):c.2061G>A (p.Gly687=) rs751782742
NM_030973.4(MED25):c.2082A>G (p.Pro694=)
NM_030973.4(MED25):c.2085C>T (p.Leu695=) rs1600332106
NM_030973.4(MED25):c.2109C>T (p.Ser703=)
NM_030973.4(MED25):c.210G>A (p.Val70=)
NM_030973.4(MED25):c.2121A>G (p.Gln707=)
NM_030973.4(MED25):c.2130T>A (p.Pro710=) rs1600332188
NM_030973.4(MED25):c.2146+13G>A
NM_030973.4(MED25):c.2146+8G>A
NM_030973.4(MED25):c.2146+9A>C
NM_030973.4(MED25):c.2147-13C>T
NM_030973.4(MED25):c.2147-19C>T
NM_030973.4(MED25):c.2160G>A (p.Leu720=)
NM_030973.4(MED25):c.2181G>C (p.Pro727=)
NM_030973.4(MED25):c.2181G>T (p.Pro727=) rs775431728
NM_030973.4(MED25):c.2199G>T (p.Leu733=)
NM_030973.4(MED25):c.2220C>T (p.Asp740=)
NM_030973.4(MED25):c.2235T>C (p.Asp745=)
NM_030973.4(MED25):c.228C>T (p.Cys76=) rs770196362
NM_030973.4(MED25):c.234C>T (p.Pro78=) rs74863643
NM_030973.4(MED25):c.243C>T (p.Tyr81=) rs2123862187
NM_030973.4(MED25):c.273C>T (p.Ala91=) rs1600313252
NM_030973.4(MED25):c.288C>G (p.Thr96=) rs2123862300
NM_030973.4(MED25):c.294C>G (p.Leu98=) rs140379422
NM_030973.4(MED25):c.294C>T (p.Leu98=) rs140379422
NM_030973.4(MED25):c.305+14C>G rs773627830
NM_030973.4(MED25):c.305+14C>T
NM_030973.4(MED25):c.305+15A>G rs2123862362
NM_030973.4(MED25):c.305+7T>C
NM_030973.4(MED25):c.306-15G>A
NM_030973.4(MED25):c.306-16C>A
NM_030973.4(MED25):c.306-16C>T
NM_030973.4(MED25):c.306-6C>T
NM_030973.4(MED25):c.342C>A (p.Ile114=)
NM_030973.4(MED25):c.345G>A (p.Ala115=)
NM_030973.4(MED25):c.357C>T (p.Ser119=)
NM_030973.4(MED25):c.36G>C (p.Gly12=)
NM_030973.4(MED25):c.372G>C (p.Leu124=) rs765814691
NM_030973.4(MED25):c.404+12dup
NM_030973.4(MED25):c.405-12C>T
NM_030973.4(MED25):c.405-16C>A
NM_030973.4(MED25):c.405-18T>C
NM_030973.4(MED25):c.405-20T>A
NM_030973.4(MED25):c.405-4G>A
NM_030973.4(MED25):c.405-5G>C
NM_030973.4(MED25):c.405-8C>A
NM_030973.4(MED25):c.414G>A (p.Thr138=) rs1333998604
NM_030973.4(MED25):c.414G>C (p.Thr138=) rs1333998604
NM_030973.4(MED25):c.432C>T (p.Leu144=) rs150534771
NM_030973.4(MED25):c.438C>T (p.Cys146=)
NM_030973.4(MED25):c.48C>T (p.Ala16=)
NM_030973.4(MED25):c.525+11C>T
NM_030973.4(MED25):c.525+12A>G
NM_030973.4(MED25):c.526-11C>T
NM_030973.4(MED25):c.526-13C>T
NM_030973.4(MED25):c.526-17C>T
NM_030973.4(MED25):c.558G>A (p.Arg186=) rs761471297
NM_030973.4(MED25):c.588G>A (p.Glu196=)
NM_030973.4(MED25):c.597C>G (p.Ala199=) rs149788020
NM_030973.4(MED25):c.597C>T (p.Ala199=) rs149788020
NM_030973.4(MED25):c.600C>A (p.Pro200=)
NM_030973.4(MED25):c.600C>G (p.Pro200=) rs753910880
NM_030973.4(MED25):c.603G>A (p.Pro201=)
NM_030973.4(MED25):c.603G>C (p.Pro201=) rs546857153
NM_030973.4(MED25):c.610C>T (p.Leu204=) rs2123878440
NM_030973.4(MED25):c.630G>A (p.Pro210=)
NM_030973.4(MED25):c.633A>G (p.Thr211=) rs369117035
NM_030973.4(MED25):c.633A>T (p.Thr211=) rs369117035
NM_030973.4(MED25):c.688+14A>G
NM_030973.4(MED25):c.689-18C>T
NM_030973.4(MED25):c.689-5C>T
NM_030973.4(MED25):c.6C>T (p.Val2=)
NM_030973.4(MED25):c.705C>G (p.Ala235=)
NM_030973.4(MED25):c.735C>G (p.Val245=) rs774587834
NM_030973.4(MED25):c.739C>T (p.Leu247=)
NM_030973.4(MED25):c.750C>G (p.Ala250=) rs1397405011
NM_030973.4(MED25):c.750C>T (p.Ala250=)
NM_030973.4(MED25):c.774A>G (p.Ser258=)
NM_030973.4(MED25):c.78C>T (p.Ala26=)
NM_030973.4(MED25):c.804C>T (p.Val268=)
NM_030973.4(MED25):c.819+19A>G
NM_030973.4(MED25):c.819+7A>G
NM_030973.4(MED25):c.819+9A>G
NM_030973.4(MED25):c.820-10C>T
NM_030973.4(MED25):c.820-11T>G
NM_030973.4(MED25):c.820-12T>C
NM_030973.4(MED25):c.820-16_820-9del
NM_030973.4(MED25):c.820-4A>G rs2074047442
NM_030973.4(MED25):c.820-5C>T
NM_030973.4(MED25):c.820-5del
NM_030973.4(MED25):c.825C>G (p.Pro275=) rs771874021
NM_030973.4(MED25):c.867G>A (p.Val289=) rs202119489
NM_030973.4(MED25):c.87A>G (p.Gly29=)
NM_030973.4(MED25):c.888G>A (p.Lys296=) rs2123879803
NM_030973.4(MED25):c.891T>C (p.Ala297=)
NM_030973.4(MED25):c.895C>T (p.Leu299=)
NM_030973.4(MED25):c.897G>A (p.Leu299=) rs1394654443
NM_030973.4(MED25):c.903T>G (p.Pro301=)
NM_030973.4(MED25):c.908-6C>A
NM_030973.4(MED25):c.915C>A (p.Pro305=)
NM_030973.4(MED25):c.939T>A (p.Ala313=)
NM_030973.4(MED25):c.945A>C (p.Gly315=) rs2123880035
NM_030973.4(MED25):c.969C>T (p.Ala323=)

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