ClinVar Miner

List of variants in gene PREPL reported as likely benign for Myasthenic syndrome, congenital, 22

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg) rs111438719 0.00218
NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr) rs140990611 0.00170
NM_001171613.2(PREPL):c.-49+1740C>A rs145322905 0.00089
NM_001171613.2(PREPL):c.917T>C (p.Met306Thr) rs150182073 0.00071
NM_001171613.2(PREPL):c.68A>G (p.Asn23Ser) rs138377728 0.00070
NM_001171613.2(PREPL):c.967A>G (p.Ile323Val) rs143785426 0.00051
NM_001171613.2(PREPL):c.444T>C (p.Asp148=) rs149836496 0.00049
NM_001171613.2(PREPL):c.1135G>C (p.Asp379His) rs140165185 0.00034
NM_001171613.2(PREPL):c.516C>T (p.Asp172=) rs138620283 0.00032
NM_001171613.2(PREPL):c.-49+1883G>T rs199854790 0.00027
NM_001171613.2(PREPL):c.594C>T (p.Asp198=) rs373041097 0.00027
NM_001171613.2(PREPL):c.750A>G (p.Leu250=) rs146874807 0.00022
NM_001171613.2(PREPL):c.1629+12C>T rs371909871 0.00019
NM_001171613.2(PREPL):c.1086+8T>G rs374029150 0.00018
NM_001171613.2(PREPL):c.1629+14A>G rs748376274 0.00017
NM_001171613.2(PREPL):c.1480-6T>C rs756590077 0.00016
NM_001171613.2(PREPL):c.485+13T>C rs13395913 0.00015
NM_001171613.2(PREPL):c.453T>C (p.Arg151=) rs368239846 0.00014
NM_001171613.2(PREPL):c.1221C>T (p.Val407=) rs749676469 0.00013
NM_001171613.2(PREPL):c.393C>T (p.Thr131=) rs200491145 0.00013
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=) rs149866553 0.00012
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys) rs773867044 0.00011
NM_001171613.2(PREPL):c.702+17G>A rs375710277 0.00011
NM_001171613.2(PREPL):c.833A>G (p.Asn278Ser) rs371862757 0.00011
NM_001171613.2(PREPL):c.-49+1808A>T rs145087654 0.00010
NM_001171613.2(PREPL):c.1164T>C (p.His388=) rs375606179 0.00010
NM_001171613.2(PREPL):c.1467G>A (p.Ala489=) rs140525819 0.00010
NM_001171613.2(PREPL):c.1059C>T (p.Arg353=) rs191502460 0.00009
NM_001171613.2(PREPL):c.-49+1791T>C rs144734530 0.00008
NM_001171613.2(PREPL):c.282C>G (p.Thr94=) rs200854824 0.00007
NM_001171613.2(PREPL):c.-49+1866C>T rs202213424 0.00006
NM_001171613.2(PREPL):c.142+7C>G rs1010169493 0.00006
NM_001171613.2(PREPL):c.1455G>A (p.Glu485=) rs376716463 0.00006
NM_001171613.2(PREPL):c.1647C>T (p.His549=) rs950736240 0.00006
NM_001171613.2(PREPL):c.350-12A>G rs746840354 0.00006
NM_001171613.2(PREPL):c.142+11A>G rs371187760 0.00005
NM_001171613.2(PREPL):c.1665C>T (p.Asn555=) rs375673588 0.00005
NM_001171613.2(PREPL):c.1419G>A (p.Gly473=) rs745480546 0.00004
NM_001171613.2(PREPL):c.143-18G>A rs570783617 0.00004
NM_001171613.2(PREPL):c.159T>C (p.Tyr53=) rs775838479 0.00004
NM_001171613.2(PREPL):c.1623A>G (p.Lys541=) rs768191033 0.00004
NM_001171613.2(PREPL):c.1725C>T (p.Ile575=) rs775908458 0.00004
NM_001171613.2(PREPL):c.105A>G (p.Gln35=) rs780932392 0.00003
NM_001171613.2(PREPL):c.1149A>G (p.Lys383=) rs749497904 0.00003
NM_001171613.2(PREPL):c.1263-12C>T rs1275787716 0.00003
NM_001171613.2(PREPL):c.1296T>C (p.Ala432=) rs369994505 0.00003
NM_001171613.2(PREPL):c.143-6A>G rs766088205 0.00003
NM_001171613.2(PREPL):c.1500C>G (p.Leu500=) rs751760140 0.00003
NM_001171613.2(PREPL):c.1753+17A>C rs752148765 0.00003
NM_001171613.2(PREPL):c.350-19T>C rs757055578 0.00003
NM_001171613.2(PREPL):c.420C>T (p.Asp140=) rs550765961 0.00003
NM_001171613.2(PREPL):c.702+16C>T rs781605745 0.00003
NM_001171613.2(PREPL):c.828C>T (p.His276=) rs375262844 0.00003
NM_001171613.2(PREPL):c.1086+18C>A rs376627733 0.00002
NM_001171613.2(PREPL):c.1266T>C (p.Gly422=) rs755648962 0.00002
NM_001171613.2(PREPL):c.1503C>T (p.Asn501=) rs201427100 0.00002
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=) rs747712512 0.00002
NM_001171613.2(PREPL):c.363C>T (p.Asp121=) rs183365746 0.00002
NM_001171613.2(PREPL):c.702+19T>A rs778003214 0.00002
NM_001171613.2(PREPL):c.703-5C>T rs758435946 0.00002
NM_001171613.2(PREPL):c.76-14G>A rs375202248 0.00002
NM_001171613.2(PREPL):c.816A>G (p.Leu272=) rs141691599 0.00002
NM_001171613.2(PREPL):c.-22C>T rs148810409 0.00001
NM_001171613.2(PREPL):c.-28A>G rs924063417 0.00001
NM_001171613.2(PREPL):c.-48-9T>C rs1295848017 0.00001
NM_001171613.2(PREPL):c.-49+1724A>C rs771527567 0.00001
NM_001171613.2(PREPL):c.-49+1784A>G rs773880492 0.00001
NM_001171613.2(PREPL):c.-49+1814G>A rs963472046 0.00001
NM_001171613.2(PREPL):c.-49+1891C>A rs565330445 0.00001
NM_001171613.2(PREPL):c.1017T>C (p.Phe339=) rs2103838543 0.00001
NM_001171613.2(PREPL):c.1029G>A (p.Gly343=) rs1372029667 0.00001
NM_001171613.2(PREPL):c.1071A>G (p.Leu357=) rs1032798799 0.00001
NM_001171613.2(PREPL):c.1086+11T>C rs747536626 0.00001
NM_001171613.2(PREPL):c.1087-9C>G rs755166149 0.00001
NM_001171613.2(PREPL):c.117C>T (p.Cys39=) rs755542165 0.00001
NM_001171613.2(PREPL):c.1227G>A (p.Val409=) rs770075037 0.00001
NM_001171613.2(PREPL):c.1230T>C (p.Asp410=) rs948010275 0.00001
NM_001171613.2(PREPL):c.1233T>C (p.Asp411=) rs916681856 0.00001
NM_001171613.2(PREPL):c.1262+18A>G rs1423411588 0.00001
NM_001171613.2(PREPL):c.1356G>A (p.Thr452=) rs944899015 0.00001
NM_001171613.2(PREPL):c.142+12T>G rs1035383845 0.00001
NM_001171613.2(PREPL):c.142+17C>G rs762928182 0.00001
NM_001171613.2(PREPL):c.1479+20A>G rs776292945 0.00001
NM_001171613.2(PREPL):c.1479+9G>A rs775539538 0.00001
NM_001171613.2(PREPL):c.1480-7T>C rs1673178981 0.00001
NM_001171613.2(PREPL):c.1515C>T (p.Asp505=) rs143261283 0.00001
NM_001171613.2(PREPL):c.1629+9A>C rs1247136692 0.00001
NM_001171613.2(PREPL):c.1701T>C (p.Tyr567=) rs1340727501 0.00001
NM_001171613.2(PREPL):c.1713C>G (p.Leu571=) rs749490971 0.00001
NM_001171613.2(PREPL):c.1753+7G>C rs768510947 0.00001
NM_001171613.2(PREPL):c.216C>T (p.Ile72=) rs754874624 0.00001
NM_001171613.2(PREPL):c.234A>G (p.Glu78=) rs1572895650 0.00001
NM_001171613.2(PREPL):c.276A>T (p.Ala92=) rs771393231 0.00001
NM_001171613.2(PREPL):c.27A>G (p.Thr9=) rs755653904 0.00001
NM_001171613.2(PREPL):c.300C>T (p.Leu100=) rs753767282 0.00001
NM_001171613.2(PREPL):c.30A>G (p.Lys10=) rs1442379605 0.00001
NM_001171613.2(PREPL):c.312C>T (p.Pro104=) rs11542603 0.00001
NM_001171613.2(PREPL):c.333G>A (p.Pro111=) rs111330295 0.00001
NM_001171613.2(PREPL):c.350-6T>C rs1386526801 0.00001
NM_001171613.2(PREPL):c.375A>G (p.Glu125=) rs367827160 0.00001
NM_001171613.2(PREPL):c.486-19T>A rs774221270 0.00001
NM_001171613.2(PREPL):c.579C>T (p.Gly193=) rs745514099 0.00001
NM_001171613.2(PREPL):c.582G>A (p.Leu194=) rs770447445 0.00001
NM_001171613.2(PREPL):c.639T>C (p.Tyr213=) rs767656657 0.00001
NM_001171613.2(PREPL):c.672C>T (p.Leu224=) rs776294129 0.00001
NM_001171613.2(PREPL):c.703-4G>A rs185432623 0.00001
NM_001171613.2(PREPL):c.703-6A>G rs1194250066 0.00001
NM_001171613.2(PREPL):c.705A>G (p.Leu235=) rs1674873051 0.00001
NM_001171613.2(PREPL):c.717G>A (p.Ala239=) rs754793038 0.00001
NM_001171613.2(PREPL):c.723T>C (p.Asp241=) rs753702774 0.00001
NM_001171613.2(PREPL):c.75+15G>T rs376068245 0.00001
NM_001171613.2(PREPL):c.76-17C>T rs2466311036 0.00001
NM_001171613.2(PREPL):c.774A>C (p.Thr258=) rs1225523730 0.00001
NM_001171613.2(PREPL):c.780G>C (p.Val260=) rs1286115958 0.00001
NM_001171613.2(PREPL):c.852G>A (p.Val284=) rs1319728552 0.00001
NM_001171613.2(PREPL):c.867T>C (p.Asp289=) rs2466223165 0.00001
NM_001171613.2(PREPL):c.-48-10C>T rs2104024279
NM_001171613.2(PREPL):c.-48-7T>C rs747940039
NM_001171613.2(PREPL):c.-49+1673G>A rs757367125
NM_001171613.2(PREPL):c.-49+1691C>T rs943164834
NM_001171613.2(PREPL):c.-49+1760C>T rs2104270696
NM_001171613.2(PREPL):c.-49+1763C>T rs773963567
NM_001171613.2(PREPL):c.-49+1793G>A rs779251130
NM_001171613.2(PREPL):c.-49+1806C>T rs749323802
NM_001171613.2(PREPL):c.-49+1820T>C
NM_001171613.2(PREPL):c.-49+1893_-49+1896del rs1572594172
NM_001171613.2(PREPL):c.1014G>A (p.Leu338=)
NM_001171613.2(PREPL):c.102C>T (p.Tyr34=) rs2466310355
NM_001171613.2(PREPL):c.1077C>G (p.Ala359=) rs1674218388
NM_001171613.2(PREPL):c.1086+11T>A rs747536626
NM_001171613.2(PREPL):c.1086+19A>G rs752893036
NM_001171613.2(PREPL):c.1087-20T>C rs1673831377
NM_001171613.2(PREPL):c.1087-22_1087-19del rs781594204
NM_001171613.2(PREPL):c.1087-4C>G rs1572857344
NM_001171613.2(PREPL):c.1104A>G (p.Pro368=) rs2466122884
NM_001171613.2(PREPL):c.1113T>G (p.Val371=) rs2466122682
NM_001171613.2(PREPL):c.1122A>G (p.Lys374=)
NM_001171613.2(PREPL):c.1134G>A (p.Glu378=) rs1236476747
NM_001171613.2(PREPL):c.1140G>A (p.Leu380=) rs779284448
NM_001171613.2(PREPL):c.1224G>C (p.Leu408=) rs2103786137
NM_001171613.2(PREPL):c.1262+11A>G
NM_001171613.2(PREPL):c.1262+19C>T rs2466120184
NM_001171613.2(PREPL):c.1263-18T>C
NM_001171613.2(PREPL):c.126T>C (p.Arg42=) rs1218178265
NM_001171613.2(PREPL):c.1293C>T (p.His431=) rs760961704
NM_001171613.2(PREPL):c.1302C>T (p.Gly434=) rs376023108
NM_001171613.2(PREPL):c.1305C>T (p.Arg435=) rs2466096387
NM_001171613.2(PREPL):c.1371C>G (p.Gly457=) rs2103751150
NM_001171613.2(PREPL):c.1395C>A (p.Thr465=)
NM_001171613.2(PREPL):c.1413T>C (p.Ala471=) rs1406661213
NM_001171613.2(PREPL):c.142+18T>C
NM_001171613.2(PREPL):c.1428A>G (p.Ala476=)
NM_001171613.2(PREPL):c.143-16A>C rs765271455
NM_001171613.2(PREPL):c.143-19C>A rs10514790
NM_001171613.2(PREPL):c.1434A>G (p.Ala478=)
NM_001171613.2(PREPL):c.1467G>C (p.Ala489=) rs140525819
NM_001171613.2(PREPL):c.1480-15T>C rs1673180257
NM_001171613.2(PREPL):c.1527T>G (p.Pro509=) rs2103696019
NM_001171613.2(PREPL):c.1557G>A (p.Gly519=)
NM_001171613.2(PREPL):c.1569T>C (p.Ser523=) rs1181427435
NM_001171613.2(PREPL):c.1581C>T (p.His527=)
NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu) rs375292548
NM_001171613.2(PREPL):c.1629+11A>T rs2466059718
NM_001171613.2(PREPL):c.1629+13A>G rs772363126
NM_001171613.2(PREPL):c.1629+9A>G rs1247136692
NM_001171613.2(PREPL):c.1630-16A>G rs2466054795
NM_001171613.2(PREPL):c.1630-5T>C rs2103687602
NM_001171613.2(PREPL):c.1672C>A (p.Arg558=) rs758003119
NM_001171613.2(PREPL):c.1677A>G (p.Val559=) rs913408771
NM_001171613.2(PREPL):c.1728G>A (p.Ala576=) rs757091047
NM_001171613.2(PREPL):c.1728G>T (p.Ala576=) rs757091047
NM_001171613.2(PREPL):c.1734T>C (p.His578=)
NM_001171613.2(PREPL):c.1743C>T (p.Asp581=)
NM_001171613.2(PREPL):c.1753+8A>T rs1553350931
NM_001171613.2(PREPL):c.175T>C (p.Leu59=) rs1675496129
NM_001171613.2(PREPL):c.198G>A (p.Gln66=) rs778184072
NM_001171613.2(PREPL):c.240T>C (p.Tyr80=)
NM_001171613.2(PREPL):c.249C>T (p.Ala83=) rs773977540
NM_001171613.2(PREPL):c.270T>C (p.Ser90=) rs2466297863
NM_001171613.2(PREPL):c.282C>T (p.Thr94=) rs200854824
NM_001171613.2(PREPL):c.336T>C (p.Asn112=) rs772575204
NM_001171613.2(PREPL):c.342C>T (p.Ser114=) rs1464308085
NM_001171613.2(PREPL):c.349+16A>G rs1675475052
NM_001171613.2(PREPL):c.349+18A>G
NM_001171613.2(PREPL):c.350-10_350-8del rs751258871
NM_001171613.2(PREPL):c.350-13T>G rs1572892572
NM_001171613.2(PREPL):c.350-16C>G rs2466279794
NM_001171613.2(PREPL):c.350-21_350-19del
NM_001171613.2(PREPL):c.360G>A (p.Lys120=) rs2103969592
NM_001171613.2(PREPL):c.390C>T (p.Tyr130=) rs2103969128
NM_001171613.2(PREPL):c.396C>T (p.Phe132=) rs1192368554
NM_001171613.2(PREPL):c.39A>G (p.Thr13=)
NM_001171613.2(PREPL):c.432C>T (p.Ala144=) rs2466277840
NM_001171613.2(PREPL):c.435T>C (p.Thr145=)
NM_001171613.2(PREPL):c.465T>C (p.Phe155=) rs2466276978
NM_001171613.2(PREPL):c.485+10T>A rs2466276450
NM_001171613.2(PREPL):c.485+8A>G rs2103967683
NM_001171613.2(PREPL):c.485+9A>G rs1479892218
NM_001171613.2(PREPL):c.486-10C>T rs2466239378
NM_001171613.2(PREPL):c.486-18CT[6] rs750292662
NM_001171613.2(PREPL):c.486-18CT[9] rs750292662
NM_001171613.2(PREPL):c.486-4C>G rs1217024448
NM_001171613.2(PREPL):c.498C>T (p.Phe166=) rs1230569140
NM_001171613.2(PREPL):c.525C>T (p.Phe175=) rs766669617
NM_001171613.2(PREPL):c.540T>C (p.Ile180=) rs1674967307
NM_001171613.2(PREPL):c.549G>A (p.Lys183=) rs2103926652
NM_001171613.2(PREPL):c.552T>G (p.Thr184=) rs774450920
NM_001171613.2(PREPL):c.564G>A (p.Val188=) rs1293632946
NM_001171613.2(PREPL):c.630C>A (p.Val210=)
NM_001171613.2(PREPL):c.702+10G>A rs770078225
NM_001171613.2(PREPL):c.702+17G>T rs375710277
NM_001171613.2(PREPL):c.702+20G>T rs758296719
NM_001171613.2(PREPL):c.702+7C>T rs1674951448
NM_001171613.2(PREPL):c.703-20T>G rs1028855087
NM_001171613.2(PREPL):c.703-4G>T
NM_001171613.2(PREPL):c.703-7C>G rs1674874642
NM_001171613.2(PREPL):c.705A>C (p.Leu235=) rs1674873051
NM_001171613.2(PREPL):c.709A>C (p.Arg237=) rs1239168091
NM_001171613.2(PREPL):c.75+10C>T rs1462201080
NM_001171613.2(PREPL):c.75+20del
NM_001171613.2(PREPL):c.75+9T>C rs772193990
NM_001171613.2(PREPL):c.759A>G (p.Thr253=) rs1424550193
NM_001171613.2(PREPL):c.76-10C>T rs1470050624
NM_001171613.2(PREPL):c.765G>A (p.Lys255=) rs747192339
NM_001171613.2(PREPL):c.780G>T (p.Val260=)
NM_001171613.2(PREPL):c.792C>T (p.Asp264=) rs1572881157
NM_001171613.2(PREPL):c.825G>A (p.Lys275=) rs1301345746
NM_001171613.2(PREPL):c.888+10A>T rs1345009317
NM_001171613.2(PREPL):c.888+12T>G rs2466222524
NM_001171613.2(PREPL):c.888+13T>C rs754371653
NM_001171613.2(PREPL):c.888+8T>C rs1426021869
NM_001171613.2(PREPL):c.889-17C>G rs374914236
NM_001171613.2(PREPL):c.889-17_889-15del rs773800894
NM_001171613.2(PREPL):c.889-20T>C rs2466161764
NM_001171613.2(PREPL):c.912C>T (p.Phe304=) rs2103839981
NM_001171613.2(PREPL):c.981A>G (p.Lys327=) rs2103839067
NM_001171613.2(PREPL):c.984T>C (p.Tyr328=) rs1674229116
NM_001171613.2(PREPL):c.993C>T (p.Tyr331=) rs1175690994

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