ClinVar Miner

List of variants in gene CHRND studied for Congenital myasthenic syndrome

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_000751.3(CHRND):c.*1240T>C rs77032539 0.00369
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_000751.3(CHRND):c.*145C>G rs530039427 0.00216
NM_000751.3(CHRND):c.*942C>T rs571263995 0.00210
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_000751.3(CHRND):c.*1189G>C rs556909638 0.00136
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_000751.3(CHRND):c.*290G>A rs535927511 0.00051
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_000751.3(CHRND):c.*580C>T rs371903548 0.00034
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_000751.3(CHRND):c.*641C>T rs190008760 0.00029
NM_000751.3(CHRND):c.*1313G>A rs554703726 0.00026
NM_000751.3(CHRND):c.*1314A>T rs574569801 0.00026
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_000751.3(CHRND):c.*379C>T rs552885486 0.00024
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_000751.3(CHRND):c.*908A>G rs547787086 0.00012
NM_000751.3(CHRND):c.*635C>T rs747270172 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000751.3(CHRND):c.1359C>T (p.Asn453=) rs776972228 0.00006
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu) rs146905561 0.00006
NM_000751.3(CHRND):c.*1278C>T rs983960063 0.00005
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys) rs199984639 0.00005
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu) rs371376389 0.00004
NM_000751.3(CHRND):c.*1032C>T rs886055786 0.00003
NM_000751.3(CHRND):c.*227G>A rs766592644 0.00003
NM_000751.3(CHRND):c.*342C>T rs1243263595 0.00002
NM_000751.3(CHRND):c.*453T>C rs575492169 0.00002
NM_000751.3(CHRND):c.*969G>A rs1479082913 0.00002
NM_000751.3(CHRND):c.1195C>T (p.Leu399Phe) rs768633138 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000751.3(CHRND):c.*196G>A rs886055783 0.00001
NM_000751.3(CHRND):c.*505C>G rs1305242921 0.00001
NM_000751.3(CHRND):c.*598G>C rs774235883 0.00001
NM_000751.3(CHRND):c.*92C>T rs561266227 0.00001
NM_000751.3(CHRND):c.145G>A (p.Glu49Lys) rs767640700 0.00001
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe) rs752410720 0.00001
NM_000751.3(CHRND):c.52+7G>A rs1388167579 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000751.3(CHRND):c.*1194C>T rs778967055
NM_000751.3(CHRND):c.*1232A>C rs1691898332
NM_000751.3(CHRND):c.*175G>A rs1691855725
NM_000751.3(CHRND):c.*268G>A rs1206421929
NM_000751.3(CHRND):c.*449C>T rs886055784
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr) rs1553575390
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000751.3(CHRND):c.1473G>T (p.Gln491His) rs886055781
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000751.3(CHRND):c.348G>A (p.Glu116=) rs1691560409

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