ClinVar Miner

List of variants in gene CHRNE studied for Congenital myasthenic syndrome

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.*144T>C rs12936083 0.46955
NM_000080.4(CHRNE):c.*437G>C rs3514 0.19221
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18207
NM_000080.4(CHRNE):c.*61C>T rs12940036 0.17963
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000080.4(CHRNE):c.*65C>T rs56067981 0.07310
NM_000080.4(CHRNE):c.*37G>A rs2229199 0.03285
NM_000080.4(CHRNE):c.*43T>C rs2229200 0.03101
NM_000080.4(CHRNE):c.*610C>T rs144554248 0.01191
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00464
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00267
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_000080.4(CHRNE):c.*267C>T rs551251860 0.00185
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_000080.4(CHRNE):c.*315T>G rs779969688 0.00046
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=) rs202051373 0.00045
NM_000080.4(CHRNE):c.*125C>T rs538687901 0.00036
NM_000080.4(CHRNE):c.*572C>G rs564549054 0.00029
NM_000080.4(CHRNE):c.*206G>A rs548395785 0.00025
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=) rs372862723 0.00016
NM_000080.4(CHRNE):c.1327-3C>T rs749489742 0.00013
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His) rs144952259 0.00006
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys) rs149083639 0.00006
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=) rs753202734 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) rs771016534 0.00004
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=) rs377178938 0.00004
NM_000080.4(CHRNE):c.*597G>A rs886053118 0.00003
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) rs200343520 0.00003
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=) rs758517310 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000080.4(CHRNE):c.*5C>T rs747566295 0.00002
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg) rs747017964 0.00002
NM_000080.4(CHRNE):c.*366G>A rs551684568 0.00001
NM_000080.4(CHRNE):c.*388C>T rs1337870258 0.00001
NM_000080.4(CHRNE):c.*38G>A rs755764652 0.00001
NM_000080.4(CHRNE):c.*556C>T rs886053120 0.00001
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala) rs1216965153 0.00001
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942 0.00001
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp) rs886053125 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778 0.00001
NM_000080.4(CHRNE):c.1220-4C>T rs201553105 0.00001
NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg) rs753739289 0.00001
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys) rs754975887 0.00001
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys) rs369709668 0.00001
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) rs764935677 0.00001
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) rs1085307690 0.00001
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) rs753512613 0.00001
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829 0.00001
NM_000080.4(CHRNE):c.*24C>T rs371649855
NM_000080.4(CHRNE):c.*329T>A rs1597611527
NM_000080.4(CHRNE):c.*383G>A rs886053121
NM_000080.4(CHRNE):c.*590C>T rs886053119
NM_000080.4(CHRNE):c.*622C>T rs886053117
NM_000080.4(CHRNE):c.1016_1032+2dup rs2507543360
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) rs139922367
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp) rs1597615227
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=) rs1226276974
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs) rs1398583523
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.1291G>A (p.Ala431Thr)
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup) rs1969834618
NM_000080.4(CHRNE):c.1326+6A>C rs886053122
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser) rs149083639
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met) rs139171143
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000080.4(CHRNE):c.985T>C (p.Ser329Pro) rs2151095207
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515

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