ClinVar Miner

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

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 236
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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 0.00186
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 0.00032
NM_001171613.2(PREPL):c.516C>T (p.Asp172=) rs138620283 0.00032
NM_001171613.2(PREPL):c.594C>T (p.Asp198=) rs373041097 0.00032
NM_001171613.2(PREPL):c.-49+1883G>T rs199854790 0.00027
NM_001171613.2(PREPL):c.750A>G (p.Leu250=) rs146874807 0.00022
NM_001171613.2(PREPL):c.1629+12C>T rs371909871 0.00021
NM_001171613.2(PREPL):c.1791T>C (p.Pro597=) rs189954086 0.00021
NM_001171613.2(PREPL):c.1629+14A>G rs748376274 0.00019
NM_001171613.2(PREPL):c.1086+8T>G rs374029150 0.00018
NM_001171613.2(PREPL):c.1480-6T>C rs756590077 0.00016
NM_001171613.2(PREPL):c.453T>C (p.Arg151=) rs368239846 0.00015
NM_001171613.2(PREPL):c.485+13T>C rs13395913 0.00015
NM_001171613.2(PREPL):c.1221C>T (p.Val407=) rs749676469 0.00014
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=) rs147585967 0.00013
NM_001171613.2(PREPL):c.702+17G>A rs375710277 0.00013
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=) rs149866553 0.00012
NM_001171613.2(PREPL):c.-49+1808A>T rs145087654 0.00011
NM_001171613.2(PREPL):c.1164T>C (p.His388=) rs375606179 0.00011
NM_001171613.2(PREPL):c.393C>T (p.Thr131=) rs200491145 0.00011
NM_001171613.2(PREPL):c.833A>G (p.Asn278Ser) rs371862757 0.00011
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.1887C>T (p.Phe629=) rs368734097 0.00009
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys) rs773867044 0.00008
NM_001171613.2(PREPL):c.1827+15C>T rs376714746 0.00007
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.1806A>G (p.Val602=) rs771937635 0.00006
NM_001171613.2(PREPL):c.282C>G (p.Thr94=) rs200854824 0.00006
NM_001171613.2(PREPL):c.350-12A>G rs746840354 0.00006
NM_001171613.2(PREPL):c.-49+1866C>T rs202213424 0.00005
NM_001171613.2(PREPL):c.1665C>T (p.Asn555=) rs375673588 0.00005
NM_001171613.2(PREPL):c.1828-17T>A rs746448655 0.00005
NM_001171613.2(PREPL):c.143-18G>A rs570783617 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.-49+1724A>C rs771527567 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.420C>T (p.Asp140=) rs550765961 0.00003
NM_001171613.2(PREPL):c.1503C>T (p.Asn501=) rs201427100 0.00002
NM_001171613.2(PREPL):c.363C>T (p.Asp121=) rs183365746 0.00002
NM_001171613.2(PREPL):c.552T>G (p.Thr184=) rs774450920 0.00002
NM_001171613.2(PREPL):c.703-5C>T rs758435946 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.-49+1814G>A rs963472046 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.1227G>A (p.Val409=) rs770075037 0.00001
NM_001171613.2(PREPL):c.1230T>C (p.Asp410=) rs948010275 0.00001
NM_001171613.2(PREPL):c.1262+18A>G rs1423411588 0.00001
NM_001171613.2(PREPL):c.1263-12C>T rs1275787716 0.00001
NM_001171613.2(PREPL):c.1266T>C (p.Gly422=) rs755648962 0.00001
NM_001171613.2(PREPL):c.1356G>A (p.Thr452=) rs944899015 0.00001
NM_001171613.2(PREPL):c.142+17C>G rs762928182 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.1754-20C>T rs1192640537 0.00001
NM_001171613.2(PREPL):c.1827+9T>C rs748870270 0.00001
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=) rs1359281085 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.30A>G (p.Lys10=) rs1442379605 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.639T>C (p.Tyr213=) rs767656657 0.00001
NM_001171613.2(PREPL):c.703-4G>A rs185432623 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.852G>A (p.Val284=) rs1319728552 0.00001
NM_001171613.2(PREPL):c.-48-10C>T rs2104024279
NM_001171613.2(PREPL):c.-48-7T>C
NM_001171613.2(PREPL):c.-48-9T>C
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
NM_001171613.2(PREPL):c.-49+1784A>G rs773880492
NM_001171613.2(PREPL):c.-49+1791T>C
NM_001171613.2(PREPL):c.-49+1793G>A rs779251130
NM_001171613.2(PREPL):c.-49+1806C>T
NM_001171613.2(PREPL):c.-49+1891C>A
NM_001171613.2(PREPL):c.-49+1893_-49+1896del rs1572594172
NM_001171613.2(PREPL):c.1017T>C (p.Phe339=) rs2103838543
NM_001171613.2(PREPL):c.1029G>A (p.Gly343=)
NM_001171613.2(PREPL):c.102C>T (p.Tyr34=)
NM_001171613.2(PREPL):c.105A>G (p.Gln35=)
NM_001171613.2(PREPL):c.1071A>G (p.Leu357=)
NM_001171613.2(PREPL):c.1077C>G (p.Ala359=)
NM_001171613.2(PREPL):c.1086+11T>A rs747536626
NM_001171613.2(PREPL):c.1086+18C>A
NM_001171613.2(PREPL):c.1086+19A>G
NM_001171613.2(PREPL):c.1087-20T>C
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=)
NM_001171613.2(PREPL):c.1113T>G (p.Val371=)
NM_001171613.2(PREPL):c.1134G>A (p.Glu378=)
NM_001171613.2(PREPL):c.1140G>A (p.Leu380=)
NM_001171613.2(PREPL):c.1149A>G (p.Lys383=)
NM_001171613.2(PREPL):c.117C>T (p.Cys39=)
NM_001171613.2(PREPL):c.1224G>C (p.Leu408=) rs2103786137
NM_001171613.2(PREPL):c.1233T>C (p.Asp411=)
NM_001171613.2(PREPL):c.1262+19C>T
NM_001171613.2(PREPL):c.126T>C (p.Arg42=)
NM_001171613.2(PREPL):c.1293C>T (p.His431=) rs760961704
NM_001171613.2(PREPL):c.1296T>C (p.Ala432=)
NM_001171613.2(PREPL):c.1302C>T (p.Gly434=) rs376023108
NM_001171613.2(PREPL):c.1305C>T (p.Arg435=)
NM_001171613.2(PREPL):c.1371C>G (p.Gly457=) rs2103751150
NM_001171613.2(PREPL):c.1413T>C (p.Ala471=)
NM_001171613.2(PREPL):c.1419G>A (p.Gly473=)
NM_001171613.2(PREPL):c.142+11A>G
NM_001171613.2(PREPL):c.142+12T>G
NM_001171613.2(PREPL):c.142+7C>G
NM_001171613.2(PREPL):c.143-16A>C
NM_001171613.2(PREPL):c.143-19C>A
NM_001171613.2(PREPL):c.1467G>C (p.Ala489=)
NM_001171613.2(PREPL):c.1479+20A>G
NM_001171613.2(PREPL):c.1479+9G>A
NM_001171613.2(PREPL):c.1480-15T>C
NM_001171613.2(PREPL):c.1480-7T>C
NM_001171613.2(PREPL):c.1515C>T (p.Asp505=)
NM_001171613.2(PREPL):c.1527T>G (p.Pro509=) rs2103696019
NM_001171613.2(PREPL):c.1569T>C (p.Ser523=) rs1181427435
NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu) rs375292548
NM_001171613.2(PREPL):c.159T>C (p.Tyr53=)
NM_001171613.2(PREPL):c.1629+11A>T
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
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)
NM_001171613.2(PREPL):c.1672C>A (p.Arg558=)
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.1753+8A>T rs1553350931
NM_001171613.2(PREPL):c.1754-7C>T
NM_001171613.2(PREPL):c.175T>C (p.Leu59=)
NM_001171613.2(PREPL):c.1803T>C (p.His601=)
NM_001171613.2(PREPL):c.1827+10C>G rs1295732711
NM_001171613.2(PREPL):c.1827+11A>T
NM_001171613.2(PREPL):c.1827+16C>T
NM_001171613.2(PREPL):c.1827+8A>T
NM_001171613.2(PREPL):c.1828-13G>A
NM_001171613.2(PREPL):c.1828-14T>C
NM_001171613.2(PREPL):c.1828-7C>A rs781459763
NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
NM_001171613.2(PREPL):c.1848C>T (p.Phe616=) rs776568419
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=) rs771707341
NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)
NM_001171613.2(PREPL):c.198G>A (p.Gln66=) rs778184072
NM_001171613.2(PREPL):c.216C>T (p.Ile72=)
NM_001171613.2(PREPL):c.249C>T (p.Ala83=)
NM_001171613.2(PREPL):c.270T>C (p.Ser90=)
NM_001171613.2(PREPL):c.27A>G (p.Thr9=)
NM_001171613.2(PREPL):c.282C>T (p.Thr94=)
NM_001171613.2(PREPL):c.300C>T (p.Leu100=)
NM_001171613.2(PREPL):c.312C>T (p.Pro104=) rs11542603
NM_001171613.2(PREPL):c.333G>A (p.Pro111=) rs111330295
NM_001171613.2(PREPL):c.336T>C (p.Asn112=) rs772575204
NM_001171613.2(PREPL):c.342C>T (p.Ser114=)
NM_001171613.2(PREPL):c.349+16A>G rs1675475052
NM_001171613.2(PREPL):c.350-10_350-8del rs751258871
NM_001171613.2(PREPL):c.350-13T>G
NM_001171613.2(PREPL):c.350-16C>G
NM_001171613.2(PREPL):c.350-19T>C
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.432C>T (p.Ala144=)
NM_001171613.2(PREPL):c.465T>C (p.Phe155=)
NM_001171613.2(PREPL):c.485+10T>A
NM_001171613.2(PREPL):c.485+8A>G rs2103967683
NM_001171613.2(PREPL):c.485+9A>G
NM_001171613.2(PREPL):c.486-10C>T
NM_001171613.2(PREPL):c.486-18CT[6] rs750292662
NM_001171613.2(PREPL):c.486-18CT[9] rs750292662
NM_001171613.2(PREPL):c.486-19T>A
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=)
NM_001171613.2(PREPL):c.540T>C (p.Ile180=)
NM_001171613.2(PREPL):c.549G>A (p.Lys183=) rs2103926652
NM_001171613.2(PREPL):c.564G>A (p.Val188=) rs1293632946
NM_001171613.2(PREPL):c.579C>T (p.Gly193=)
NM_001171613.2(PREPL):c.672C>T (p.Leu224=)
NM_001171613.2(PREPL):c.702+10G>A
NM_001171613.2(PREPL):c.702+16C>T
NM_001171613.2(PREPL):c.702+17G>T
NM_001171613.2(PREPL):c.702+19T>A
NM_001171613.2(PREPL):c.702+20G>T
NM_001171613.2(PREPL):c.702+7C>T rs1674951448
NM_001171613.2(PREPL):c.703-20T>G rs1028855087
NM_001171613.2(PREPL):c.703-6A>G
NM_001171613.2(PREPL):c.703-7C>G rs1674874642
NM_001171613.2(PREPL):c.705A>C (p.Leu235=)
NM_001171613.2(PREPL):c.705A>G (p.Leu235=)
NM_001171613.2(PREPL):c.709A>C (p.Arg237=)
NM_001171613.2(PREPL):c.75+10C>T
NM_001171613.2(PREPL):c.75+9T>C
NM_001171613.2(PREPL):c.759A>G (p.Thr253=) rs1424550193
NM_001171613.2(PREPL):c.76-10C>T rs1470050624
NM_001171613.2(PREPL):c.76-14G>A
NM_001171613.2(PREPL):c.76-17C>T
NM_001171613.2(PREPL):c.765G>A (p.Lys255=)
NM_001171613.2(PREPL):c.774A>C (p.Thr258=)
NM_001171613.2(PREPL):c.780G>C (p.Val260=)
NM_001171613.2(PREPL):c.792C>T (p.Asp264=) rs1572881157
NM_001171613.2(PREPL):c.816A>G (p.Leu272=)
NM_001171613.2(PREPL):c.825G>A (p.Lys275=)
NM_001171613.2(PREPL):c.828C>T (p.His276=)
NM_001171613.2(PREPL):c.867T>C (p.Asp289=)
NM_001171613.2(PREPL):c.888+10A>T
NM_001171613.2(PREPL):c.888+12T>G
NM_001171613.2(PREPL):c.888+13T>C
NM_001171613.2(PREPL):c.888+8T>C
NM_001171613.2(PREPL):c.889-17C>G
NM_001171613.2(PREPL):c.889-17_889-15del
NM_001171613.2(PREPL):c.889-20T>C
NM_001171613.2(PREPL):c.912C>T (p.Phe304=) rs2103839981
NM_001171613.2(PREPL):c.984T>C (p.Tyr328=)
NM_001171613.2(PREPL):c.993C>T (p.Tyr331=)

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