ClinVar Miner

List of variants in gene CHRNA1 reported as likely benign for arthrogryposis syndrome

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000079.4(CHRNA1):c.-37A>G rs182459320 0.00217
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr) rs149292107 0.00079
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly) rs144533405 0.00065
NM_000079.4(CHRNA1):c.*411G>A rs560280191 0.00057
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_000079.4(CHRNA1):c.779-12_779-11del rs1491478953 0.00039
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=) rs148502695 0.00036
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=) rs144020157 0.00022
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=) rs762327875 0.00021
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) rs151081792 0.00020
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr) rs146863119 0.00019
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=) rs749002411 0.00016
NM_000079.4(CHRNA1):c.945C>T (p.Val315=) rs371524795 0.00016
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=) rs199555685 0.00014
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val) rs768878508 0.00013
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000079.4(CHRNA1):c.189+18G>A rs201082834 0.00011
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) rs141733086 0.00011
NM_000079.4(CHRNA1):c.190-18C>T rs769989280 0.00010
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=) rs143047599 0.00009
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=) rs375856493 0.00009
NM_000079.4(CHRNA1):c.525C>T (p.Val175=) rs186421442 0.00008
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000079.4(CHRNA1):c.1242+10G>A rs758078454 0.00006
NM_000079.4(CHRNA1):c.541-15del rs748211851 0.00006
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys) rs368979094 0.00006
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile) rs200102479 0.00006
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=) rs758834482 0.00006
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=) rs751313425 0.00005
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000079.4(CHRNA1):c.144C>T (p.Val48=) rs766106058 0.00004
NM_000079.4(CHRNA1):c.189+16T>A rs1419917128 0.00004
NM_000079.4(CHRNA1):c.235-18G>A rs1162280178 0.00004
NM_000079.4(CHRNA1):c.345-10C>T rs775001526 0.00004
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser) rs772271812 0.00004
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=) rs531534298 0.00004
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=) rs186607397 0.00004
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=) rs776420240 0.00003
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=) rs1397059147 0.00003
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=) rs779379425 0.00002
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=) rs768256648 0.00002
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=) rs200535960 0.00002
NM_000079.4(CHRNA1):c.1002+17C>G rs777724002 0.00001
NM_000079.4(CHRNA1):c.1003-9T>C rs769523120 0.00001
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=) rs767048858 0.00001
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=) rs1553541913 0.00001
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=) rs761249168 0.00001
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=) rs137852808 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 0.00001
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=) rs746590795 0.00001
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=) rs1684006081 0.00001
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=) rs763984762 0.00001
NM_000079.4(CHRNA1):c.344+12G>C rs774924187 0.00001
NM_000079.4(CHRNA1):c.345-14T>A rs776569258 0.00001
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=) rs372122272 0.00001
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=) rs751402231 0.00001
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=) rs534185815 0.00001
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=) rs757027133 0.00001
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) rs137852798 0.00001
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=) rs773397465 0.00001
NM_000079.4(CHRNA1):c.778+18G>A rs375471139 0.00001
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=) rs754070026 0.00001
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=) rs1175922060 0.00001
NM_000079.4(CHRNA1):c.*422G>T rs184095877
NM_000079.4(CHRNA1):c.1002+10G>C
NM_000079.4(CHRNA1):c.1002+14C>G
NM_000079.4(CHRNA1):c.1002+14C>T
NM_000079.4(CHRNA1):c.1003-12T>A rs771405347
NM_000079.4(CHRNA1):c.1003-12_1003-8del rs1251304590
NM_000079.4(CHRNA1):c.1003-6T>C
NM_000079.4(CHRNA1):c.1003-8T>C rs1683789605
NM_000079.4(CHRNA1):c.1003-9T>A rs769523120
NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)
NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=)
NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=)
NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=) rs141280544
NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=) rs774423842
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=) rs1683784412
NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)
NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=)
NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)
NM_000079.4(CHRNA1):c.1242+11T>A
NM_000079.4(CHRNA1):c.1242+17G>A
NM_000079.4(CHRNA1):c.1243-7C>T
NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=)
NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=)
NM_000079.4(CHRNA1):c.1284C>T (p.His428=) rs1173467478
NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)
NM_000079.4(CHRNA1):c.189+7_189+8insCCT rs1348568801
NM_000079.4(CHRNA1):c.18C>T (p.Leu6=)
NM_000079.4(CHRNA1):c.190-12T>A
NM_000079.4(CHRNA1):c.235-14G>A
NM_000079.4(CHRNA1):c.235-19T>C rs1287601157
NM_000079.4(CHRNA1):c.235-20C>T
NM_000079.4(CHRNA1):c.235-8G>T
NM_000079.4(CHRNA1):c.235-9dup rs1558913982
NM_000079.4(CHRNA1):c.271G>A (p.Asp91Asn) rs1684008469
NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=) rs771749641
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=) rs2105350637
NM_000079.4(CHRNA1):c.344+14A>G rs1458805086
NM_000079.4(CHRNA1):c.344+15T>C
NM_000079.4(CHRNA1):c.344+17G>C
NM_000079.4(CHRNA1):c.345-19T>A rs572077048
NM_000079.4(CHRNA1):c.345-7del
NM_000079.4(CHRNA1):c.387C>T (p.Leu129=)
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=) rs1443518305
NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)
NM_000079.4(CHRNA1):c.43+11G>A
NM_000079.4(CHRNA1):c.43+20G>T
NM_000079.4(CHRNA1):c.44-10G>T rs2105352253
NM_000079.4(CHRNA1):c.44-9C>A rs2105352249
NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)
NM_000079.4(CHRNA1):c.510C>G (p.Thr170=)
NM_000079.4(CHRNA1):c.516C>T (p.Asp172=)
NM_000079.4(CHRNA1):c.540+16A>C
NM_000079.4(CHRNA1):c.540+17T>A
NM_000079.4(CHRNA1):c.541-12T>C rs1193318305
NM_000079.4(CHRNA1):c.541-13C>T
NM_000079.4(CHRNA1):c.541-17del
NM_000079.4(CHRNA1):c.561G>A (p.Leu187=)
NM_000079.4(CHRNA1):c.561G>C (p.Leu187=)
NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)
NM_000079.4(CHRNA1):c.591G>A (p.Val197=)
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=) rs2105347898
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=) rs1574006599
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=) rs759534966
NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)
NM_000079.4(CHRNA1):c.672C>T (p.His224=) rs1574006465
NM_000079.4(CHRNA1):c.708C>T (p.Val236=)
NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)
NM_000079.4(CHRNA1):c.75C>T (p.Thr25=)
NM_000079.4(CHRNA1):c.795G>A (p.Leu265=)
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=) rs374093236
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=) rs1683818752
NM_000079.4(CHRNA1):c.876C>A (p.Pro292=)
NM_000079.4(CHRNA1):c.954A>C (p.Thr318=)

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