ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease dominant intermediate F by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_021629.4(GNB4):c.668C>T (p.Thr223Met) rs144385061 0.00061
NM_021629.4(GNB4):c.97-14G>A rs370924983 0.00022
NM_021629.4(GNB4):c.375C>T (p.Asn125=) rs772099911 0.00011
NM_021629.4(GNB4):c.57+18C>T rs372082625 0.00011
NM_021629.4(GNB4):c.916+9A>G rs376068792 0.00011
NM_021629.4(GNB4):c.885T>C (p.Asn295=) rs550870195 0.00008
NM_021629.4(GNB4):c.204-4C>G rs377746889 0.00006
NM_021629.4(GNB4):c.700-18T>G rs780957835 0.00005
NM_021629.4(GNB4):c.195C>T (p.Tyr65=) rs768164095 0.00004
NM_021629.4(GNB4):c.259A>G (p.Thr87Ala) rs780046027 0.00004
NM_021629.4(GNB4):c.367A>G (p.Ile123Val) rs760551965 0.00004
NM_021629.4(GNB4):c.574T>G (p.Leu192Val) rs556759178 0.00004
NM_021629.4(GNB4):c.917-19T>C rs370399077 0.00004
NM_021629.4(GNB4):c.513C>T (p.Ile171=) rs367709368 0.00003
NM_021629.4(GNB4):c.57+19A>G rs771167187 0.00003
NM_021629.4(GNB4):c.747T>G (p.Thr249=) rs774571998 0.00003
NM_021629.4(GNB4):c.268-16G>C rs201894015 0.00002
NM_021629.4(GNB4):c.363C>T (p.Cys121=) rs1316185536 0.00002
NM_021629.4(GNB4):c.432G>A (p.Gly144=) rs759607911 0.00002
NM_021629.4(GNB4):c.723C>T (p.Phe241=) rs752815541 0.00002
NM_021629.4(GNB4):c.84A>C (p.Ala28=) rs770125763 0.00002
NM_021629.4(GNB4):c.896C>T (p.Thr299Met) rs202181846 0.00002
NM_021629.4(GNB4):c.204-7_204-6insT rs1471080508 0.00001
NM_021629.4(GNB4):c.27A>G (p.Gln9=) rs376598495 0.00001
NM_021629.4(GNB4):c.291C>T (p.Ser97=) rs370235365 0.00001
NM_021629.4(GNB4):c.594T>C (p.Thr198=) rs768745441 0.00001
NM_021629.4(GNB4):c.709A>C (p.Asn237His) rs758131126 0.00001
NM_021629.4(GNB4):c.803A>G (p.Asn268Ser) rs200411099 0.00001
NM_021629.4(GNB4):c.87G>A (p.Thr29=) rs1241877103 0.00001
NM_021629.4(GNB4):c.897G>A (p.Thr299=) rs1431464178 0.00001
NM_021629.4(GNB4):c.916+10T>C rs371633908 0.00001
NM_021629.4(GNB4):c.918T>G (p.Gly306=) rs1714292732 0.00001
NM_021629.4(GNB4):c.96+9T>C rs1222924595 0.00001
NM_021629.4(GNB4):c.1020T>C (p.Asn340=)
NM_021629.4(GNB4):c.203+10T>G
NM_021629.4(GNB4):c.204-4C>T rs377746889
NM_021629.4(GNB4):c.267+20C>A
NM_021629.4(GNB4):c.268-15_268-11del
NM_021629.4(GNB4):c.268-19T>C
NM_021629.4(GNB4):c.339C>T (p.Ala113=)
NM_021629.4(GNB4):c.399G>C (p.Val133=) rs2108591002
NM_021629.4(GNB4):c.409C>A (p.Arg137=)
NM_021629.4(GNB4):c.430+13A>G
NM_021629.4(GNB4):c.431-13C>T
NM_021629.4(GNB4):c.431-16A>C
NM_021629.4(GNB4):c.431-5T>C
NM_021629.4(GNB4):c.45G>T (p.Arg15=) rs1038277192
NM_021629.4(GNB4):c.504A>G (p.Leu168=)
NM_021629.4(GNB4):c.543T>C (p.Thr181=)
NM_021629.4(GNB4):c.57+7C>A
NM_021629.4(GNB4):c.58-18C>T
NM_021629.4(GNB4):c.624C>T (p.Ser208=)
NM_021629.4(GNB4):c.636T>C (p.Asp212=)
NM_021629.4(GNB4):c.645T>C (p.Asp215=) rs755596977
NM_021629.4(GNB4):c.669G>A (p.Thr223=)
NM_021629.4(GNB4):c.681A>G (p.Ser227=) rs2108589151
NM_021629.4(GNB4):c.697A>G (p.Ser233Gly) rs538233963
NM_021629.4(GNB4):c.699+10T>C rs1433602623
NM_021629.4(GNB4):c.699+12G>A
NM_021629.4(GNB4):c.699+14A>G rs2108589120
NM_021629.4(GNB4):c.700-10T>G rs2108580143
NM_021629.4(GNB4):c.700-18del rs1456809980
NM_021629.4(GNB4):c.714A>T (p.Gly238=) rs1433615086
NM_021629.4(GNB4):c.744C>T (p.Ala248=) rs1207477015
NM_021629.4(GNB4):c.747T>C (p.Thr249=)
NM_021629.4(GNB4):c.750C>T (p.Cys250=)
NM_021629.4(GNB4):c.756C>G (p.Leu252=) rs371587505
NM_021629.4(GNB4):c.756C>T (p.Leu252=)
NM_021629.4(GNB4):c.771A>G (p.Ala257=) rs878855069
NM_021629.4(GNB4):c.783A>G (p.Leu261=)
NM_021629.4(GNB4):c.784T>C (p.Leu262=)
NM_021629.4(GNB4):c.787T>C (p.Leu263=) rs778880529
NM_021629.4(GNB4):c.789G>A (p.Leu263=)
NM_021629.4(GNB4):c.834C>T (p.Phe278=)
NM_021629.4(GNB4):c.867C>T (p.Tyr289=)
NM_021629.4(GNB4):c.903A>G (p.Lys301=) rs1167931862
NM_021629.4(GNB4):c.916+16C>G
NM_021629.4(GNB4):c.916+17A>C rs1714426501
NM_021629.4(GNB4):c.916+20T>G
NM_021629.4(GNB4):c.917-10T>C rs749107679
NM_021629.4(GNB4):c.917-12dup rs764075662
NM_021629.4(GNB4):c.917-15G>C
NM_021629.4(GNB4):c.917-15G>T rs2108575181
NM_021629.4(GNB4):c.917-20T>C
NM_021629.4(GNB4):c.917-49_917-7del rs2108575167
NM_021629.4(GNB4):c.921C>T (p.Val307=) rs879100241
NM_021629.4(GNB4):c.952T>C (p.Leu318=) rs1324179212
NM_021629.4(GNB4):c.957T>G (p.Gly319=)
NM_021629.4(GNB4):c.96+16T>C
NM_021629.4(GNB4):c.96+17C>A
NM_021629.4(GNB4):c.96+17_96+20del rs1388221736
NM_021629.4(GNB4):c.981G>A (p.Val327=) rs2108575061

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