List of variants in gene CHRND studied for congenital myasthenic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 98

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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.821-2A>C	rs762875734	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.697C>T (p.Arg233Cys)	rs144063384	0.00006
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln)	rs143002322	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.1204G>A (p.Glu402Lys)	rs145955590	0.00004
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.1220G>A (p.Arg407Gln)	rs563035306	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.127C>T (p.Arg43Trp)	rs55868108	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.132C>G (p.Pro44=)	rs774771779	0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)	rs573680102	0.00001
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr)	rs1085307559	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.234G>A (p.Trp78Ter)	rs121909505	0.00001
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)	rs121909509	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_000751.2(CHRND):c.[1319A>G];[73G>T]
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.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr)	rs1553575390
NM_000751.3(CHRND):c.1441_1443del (p.Met481del)	rs2106215688
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.188T>C (p.Leu63Pro)	rs121909508
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro)	rs1691518594
NM_000751.3(CHRND):c.238G>A (p.Glu80Lys)	rs121909504
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)	rs2106208285
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)	rs545298641
NM_000751.3(CHRND):c.348G>A (p.Glu116=)	rs1691560409
NM_000751.3(CHRND):c.497C>T (p.Ser166Phe)	rs528286132
NM_000751.3(CHRND):c.52+1G>A	rs2106205676
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn)	rs1691584182
NM_000751.3(CHRND):c.812C>A (p.Pro271Gln)	rs121909503
NM_000751.3(CHRND):c.820_820+1del	rs879255564
NM_000751.3(CHRND):c.826G>A (p.Glu276Lys)
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)	rs121909502
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)	rs1574633904
NM_000751.3(CHRND):c.901_1048-282del
NM_000751.3(CHRND):c.919_920delinsAG (p.Pro307Ser)
NM_000751.3(CHRND):c.961A>C (p.Thr321Pro)
NM_000751.3(CHRND):c.982_983del (p.Val328fs)

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