ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth Neuropathy X by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.36C>T (p.Gly12=) rs756086307 0.00014
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246 0.00014
NM_002764.4(PRPS1):c.876C>T (p.Ile292=) rs202233161 0.00007
NM_000166.6(GJB1):c.37G>A (p.Val13Met) rs104894820 0.00006
NM_000166.6(GJB1):c.441C>T (p.Ala147=) rs765686240 0.00006
NM_002764.4(PRPS1):c.530+18A>G rs377525200 0.00005
NM_002764.4(PRPS1):c.870T>C (p.Ile290=) rs754068855 0.00005
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984 0.00004
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser) rs781312706 0.00004
NM_002764.4(PRPS1):c.454C>T (p.Leu152=) rs772838760 0.00004
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899 0.00003
NM_000166.6(GJB1):c.414C>T (p.Ser138=) rs1317916250 0.00003
NM_000166.6(GJB1):c.438G>A (p.Glu146=) rs776798195 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_000166.6(GJB1):c.574G>A (p.Val192Ile) rs771579861 0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu) rs780335726 0.00003
NM_000166.6(GJB1):c.768T>C (p.Asp256=) rs1248389821 0.00003
NM_000166.6(GJB1):c.78G>A (p.Ser26=) rs749174507 0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn) rs748095080 0.00003
NM_002764.4(PRPS1):c.315G>A (p.Ala105=) rs768455048 0.00003
NM_002764.4(PRPS1):c.420C>T (p.Ile140=) rs373971736 0.00003
NM_000166.6(GJB1):c.354G>A (p.Glu118=) rs1174424501 0.00002
NM_000166.6(GJB1):c.522C>T (p.Pro174=) rs1271866184 0.00002
NM_000166.6(GJB1):c.564C>T (p.Thr188=) rs746270194 0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084 0.00002
NM_002764.4(PRPS1):c.24C>T (p.Ser8=) rs754682838 0.00002
NM_002764.4(PRPS1):c.433T>C (p.Leu145=) rs768454424 0.00002
NM_002764.4(PRPS1):c.60T>C (p.Ala20=) rs756853882 0.00002
NM_000166.6(GJB1):c.108G>C (p.Leu36=) rs149350998 0.00001
NM_000166.6(GJB1):c.120A>G (p.Ala40=) rs1481496306 0.00001
NM_000166.6(GJB1):c.126T>C (p.Ser42=) rs1184846357 0.00001
NM_000166.6(GJB1):c.165A>G (p.Thr55=) rs1173034334 0.00001
NM_000166.6(GJB1):c.183C>T (p.Asn61=) rs1364055284 0.00001
NM_000166.6(GJB1):c.21C>T (p.Tyr7=) rs2092541958 0.00001
NM_000166.6(GJB1):c.261A>G (p.Pro87=) rs376994837 0.00001
NM_000166.6(GJB1):c.282C>T (p.His94=) rs756000896 0.00001
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098 0.00001
NM_000166.6(GJB1):c.501G>A (p.Lys167=) rs766201464 0.00001
NM_000166.6(GJB1):c.510C>G (p.Val170=) rs758610223 0.00001
NM_000166.6(GJB1):c.546C>T (p.Ser182=) rs781639935 0.00001
NM_000166.6(GJB1):c.606C>T (p.Ile202=) rs1323117815 0.00001
NM_000166.6(GJB1):c.69A>G (p.Val23=) rs780076535 0.00001
NM_000166.6(GJB1):c.732G>A (p.Lys244=) rs1198937821 0.00001
NM_000166.6(GJB1):c.807C>T (p.Thr269=) rs750620543 0.00001
NM_002764.4(PRPS1):c.122+16G>A rs756583830 0.00001
NM_002764.4(PRPS1):c.123-6T>C rs1226197511 0.00001
NM_002764.4(PRPS1):c.177T>A (p.Gly59=) rs147896410 0.00001
NM_002764.4(PRPS1):c.183C>T (p.Gly61=) rs371538576 0.00001
NM_002764.4(PRPS1):c.228C>A (p.Ala76=) rs1243920916 0.00001
NM_002764.4(PRPS1):c.261A>C (p.Ala87=) rs755850703 0.00001
NM_002764.4(PRPS1):c.348A>G (p.Leu116=) rs774382720 0.00001
NM_002764.4(PRPS1):c.459G>A (p.Lys153=) rs1396476426 0.00001
NM_002764.4(PRPS1):c.531-19A>T rs373152693 0.00001
NM_002764.4(PRPS1):c.704+8T>A rs1202786082 0.00001
NM_002764.4(PRPS1):c.759C>T (p.Phe253=) rs757148256 0.00001
NM_002764.4(PRPS1):c.789C>T (p.Asn263=) rs1210109668 0.00001
NM_002764.4(PRPS1):c.78G>A (p.Glu26=) rs1215685426 0.00001
NM_002764.4(PRPS1):c.807A>C (p.Val269=) rs1461313913 0.00001
NM_002764.4(PRPS1):c.864+7A>T rs1158691577 0.00001
NM_002764.4(PRPS1):c.865-14T>C rs766514496 0.00001
NM_002764.4(PRPS1):c.868A>G (p.Ile290Val) rs1229690158 0.00001
NM_000166.6(GJB1):c.108G>T (p.Leu36=) rs149350998
NM_000166.6(GJB1):c.129G>A (p.Val43=) rs2147945183
NM_000166.6(GJB1):c.135T>G (p.Gly45=) rs1602348813
NM_000166.6(GJB1):c.147T>C (p.Ser49=) rs2092542885
NM_000166.6(GJB1):c.162C>T (p.Asn54=) rs2147945331
NM_000166.6(GJB1):c.171G>A (p.Gln57=) rs1602348875
NM_000166.6(GJB1):c.198C>T (p.Asp66=)
NM_000166.6(GJB1):c.201A>G (p.Gln67=)
NM_000166.6(GJB1):c.216C>G (p.Ser72=)
NM_000166.6(GJB1):c.216C>T (p.Ser72=)
NM_000166.6(GJB1):c.228G>A (p.Leu76=)
NM_000166.6(GJB1):c.270C>G (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.270C>T (p.Leu90=) rs938061009
NM_000166.6(GJB1):c.294G>A (p.Gln98=) rs2147945792
NM_000166.6(GJB1):c.300C>T (p.His100=)
NM_000166.6(GJB1):c.309G>A (p.Lys103=)
NM_000166.6(GJB1):c.30C>G (p.Leu10=)
NM_000166.6(GJB1):c.327G>A (p.Glu109=)
NM_000166.6(GJB1):c.33T>C (p.Ser11=) rs2147944838
NM_000166.6(GJB1):c.345A>G (p.Leu115=) rs2092544200
NM_000166.6(GJB1):c.360G>A (p.Val120=) rs747185844
NM_000166.6(GJB1):c.363G>A (p.Lys121=) rs1341256650
NM_000166.6(GJB1):c.364A>C (p.Arg122=)
NM_000166.6(GJB1):c.36C>A (p.Gly12=) rs756086307
NM_000166.6(GJB1):c.375C>T (p.Val125=) rs2092544353
NM_000166.6(GJB1):c.378C>T (p.His126=) rs2147945987
NM_000166.6(GJB1):c.384A>G (p.Ser128=)
NM_000166.6(GJB1):c.393G>A (p.Leu131=) rs2092544471
NM_000166.6(GJB1):c.402C>G (p.Thr134=)
NM_000166.6(GJB1):c.405T>C (p.Tyr135=)
NM_000166.6(GJB1):c.420G>A (p.Val140=) rs2147946113
NM_000166.6(GJB1):c.423C>T (p.Phe141=)
NM_000166.6(GJB1):c.430T>C (p.Leu144=)
NM_000166.6(GJB1):c.447C>T (p.Phe149=)
NM_000166.6(GJB1):c.480T>C (p.Tyr160=)
NM_000166.6(GJB1):c.483C>T (p.Ala161=) rs1602349458
NM_000166.6(GJB1):c.489G>A (p.Val163=)
NM_000166.6(GJB1):c.519C>T (p.Cys173=) rs2092545291
NM_000166.6(GJB1):c.54T>C (p.Thr18=)
NM_000166.6(GJB1):c.555C>T (p.Thr185=) rs1342096912
NM_000166.6(GJB1):c.564C>G (p.Thr188=)
NM_000166.6(GJB1):c.573C>T (p.Thr191=) rs776040132
NM_000166.6(GJB1):c.579C>T (p.Phe193=)
NM_000166.6(GJB1):c.591C>T (p.Ala197=)
NM_000166.6(GJB1):c.630G>A (p.Val210=)
NM_000166.6(GJB1):c.633C>T (p.Tyr211=) rs1569215443
NM_000166.6(GJB1):c.639C>T (p.Ile213=) rs2147946992
NM_000166.6(GJB1):c.642C>T (p.Ile214=)
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln) rs1057524799
NM_000166.6(GJB1):c.675C>T (p.Ser225=)
NM_000166.6(GJB1):c.681A>T (p.Pro227=) rs2092546281
NM_000166.6(GJB1):c.699G>C (p.Ser233=)
NM_000166.6(GJB1):c.702C>T (p.Gly234=)
NM_000166.6(GJB1):c.711C>T (p.His237=)
NM_000166.6(GJB1):c.717C>G (p.Leu239=) rs2147947208
NM_000166.6(GJB1):c.744C>A (p.Ile248=) rs2147947224
NM_000166.6(GJB1):c.759T>C (p.Ser253=)
NM_000166.6(GJB1):c.75C>G (p.Leu25=) rs1602348670
NM_000166.6(GJB1):c.762G>A (p.Glu254=)
NM_000166.6(GJB1):c.804C>T (p.Gly268=)
NM_000166.6(GJB1):c.816G>A (p.Gly272=)
NM_000166.6(GJB1):c.81C>T (p.Val27=)
NM_000166.6(GJB1):c.825A>G (p.Glu275=)
NM_000166.6(GJB1):c.831C>T (p.Ser277=) rs1444755256
NM_000166.6(GJB1):c.837C>G (p.Arg279=)
NM_000166.6(GJB1):c.837C>T (p.Arg279=) rs2092546981
NM_000166.6(GJB1):c.93C>T (p.Phe31=) rs1602348714
NM_000166.6(GJB1):c.99C>T (p.Ile33=) rs2092542459
NM_002764.4(PRPS1):c.111C>T (p.Asn37=)
NM_002764.4(PRPS1):c.117G>A (p.Glu39=)
NM_002764.4(PRPS1):c.120C>T (p.Thr40=)
NM_002764.4(PRPS1):c.122+10A>G rs2147674828
NM_002764.4(PRPS1):c.122+11A>G rs1260660802
NM_002764.4(PRPS1):c.122+11A>T rs1260660802
NM_002764.4(PRPS1):c.122+13T>C
NM_002764.4(PRPS1):c.122+15G>A
NM_002764.4(PRPS1):c.122+17G>A
NM_002764.4(PRPS1):c.122+18A>G
NM_002764.4(PRPS1):c.123-11C>A
NM_002764.4(PRPS1):c.123-4G>A rs2147681376
NM_002764.4(PRPS1):c.135T>C (p.Gly45=) rs1925520913
NM_002764.4(PRPS1):c.168T>C (p.Val56=) rs2147681415
NM_002764.4(PRPS1):c.171G>A (p.Gln57=) rs2147681418
NM_002764.4(PRPS1):c.180T>C (p.Cys60=) rs2147681429
NM_002764.4(PRPS1):c.183C>A (p.Gly61=)
NM_002764.4(PRPS1):c.228C>T (p.Ala76=)
NM_002764.4(PRPS1):c.249C>T (p.Ser83=)
NM_002764.4(PRPS1):c.252G>A (p.Arg84=) rs983928739
NM_002764.4(PRPS1):c.264C>A (p.Val88=)
NM_002764.4(PRPS1):c.270A>T (p.Pro90=)
NM_002764.4(PRPS1):c.273C>T (p.Cys91=)
NM_002764.4(PRPS1):c.27C>T (p.Gly9=)
NM_002764.4(PRPS1):c.282T>C (p.Tyr94=) rs1925523363
NM_002764.4(PRPS1):c.285C>G (p.Ala95=)
NM_002764.4(PRPS1):c.306+17A>T
NM_002764.4(PRPS1):c.306+7G>A rs2147681528
NM_002764.4(PRPS1):c.307-14T>C
NM_002764.4(PRPS1):c.307-6A>G
NM_002764.4(PRPS1):c.307-8C>T
NM_002764.4(PRPS1):c.333T>G (p.Leu111=)
NM_002764.4(PRPS1):c.348A>C (p.Leu116=) rs774382720
NM_002764.4(PRPS1):c.357A>C (p.Ala119=)
NM_002764.4(PRPS1):c.366T>C (p.Asp122=)
NM_002764.4(PRPS1):c.378C>T (p.Thr126=)
NM_002764.4(PRPS1):c.393T>G (p.Ala131=)
NM_002764.4(PRPS1):c.39G>A (p.Gln13=)
NM_002764.4(PRPS1):c.405+13G>A
NM_002764.4(PRPS1):c.405+14C>T
NM_002764.4(PRPS1):c.405+7G>A
NM_002764.4(PRPS1):c.406-14G>C
NM_002764.4(PRPS1):c.406-15A>C rs2147683166
NM_002764.4(PRPS1):c.406-17C>A
NM_002764.4(PRPS1):c.406-4A>G rs1357998300
NM_002764.4(PRPS1):c.406-9T>C
NM_002764.4(PRPS1):c.420C>A (p.Ile140=)
NM_002764.4(PRPS1):c.435G>A (p.Leu145=)
NM_002764.4(PRPS1):c.43T>C (p.Leu15=) rs1602893240
NM_002764.4(PRPS1):c.441A>G (p.Ala147=) rs2147683179
NM_002764.4(PRPS1):c.447G>T (p.Pro149=) rs80338730
NM_002764.4(PRPS1):c.450T>C (p.Ala150=)
NM_002764.4(PRPS1):c.456A>C (p.Leu152=) rs61735617
NM_002764.4(PRPS1):c.471G>A (p.Glu157=)
NM_002764.4(PRPS1):c.480T>C (p.Ser160=)
NM_002764.4(PRPS1):c.480T>G (p.Ser160=)
NM_002764.4(PRPS1):c.492C>T (p.Asn164=)
NM_002764.4(PRPS1):c.519T>A (p.Gly173=)
NM_002764.4(PRPS1):c.519T>G (p.Gly173=)
NM_002764.4(PRPS1):c.530+10A>G rs1602902959
NM_002764.4(PRPS1):c.530+14_530+17dup
NM_002764.4(PRPS1):c.530+15A>T
NM_002764.4(PRPS1):c.530+19T>C
NM_002764.4(PRPS1):c.530+19T>G
NM_002764.4(PRPS1):c.531-11_531-10del
NM_002764.4(PRPS1):c.531-15C>A
NM_002764.4(PRPS1):c.531-18A>G
NM_002764.4(PRPS1):c.531-9G>C rs2147684756
NM_002764.4(PRPS1):c.54A>G (p.Lys18=)
NM_002764.4(PRPS1):c.555G>A (p.Leu185=)
NM_002764.4(PRPS1):c.594G>A (p.Lys198=)
NM_002764.4(PRPS1):c.600T>C (p.Asn200=)
NM_002764.4(PRPS1):c.612C>T (p.Arg204=)
NM_002764.4(PRPS1):c.624G>A (p.Val208=)
NM_002764.4(PRPS1):c.630T>C (p.Asp210=) rs2147684811
NM_002764.4(PRPS1):c.639T>C (p.Asp213=)
NM_002764.4(PRPS1):c.63C>T (p.Asp21=)
NM_002764.4(PRPS1):c.672C>T (p.Asp224=)
NM_002764.4(PRPS1):c.675T>C (p.Thr225=)
NM_002764.4(PRPS1):c.681C>T (p.Gly227=)
NM_002764.4(PRPS1):c.693T>C (p.His231=) rs2147684853
NM_002764.4(PRPS1):c.69G>A (p.Leu23=) rs1925240689
NM_002764.4(PRPS1):c.705-4C>T rs1925730100
NM_002764.4(PRPS1):c.705-5T>A
NM_002764.4(PRPS1):c.717T>G (p.Ala239=)
NM_002764.4(PRPS1):c.727A>C (p.Arg243=)
NM_002764.4(PRPS1):c.732T>G (p.Val244=) rs1925730397
NM_002764.4(PRPS1):c.753A>G (p.Gly251=)
NM_002764.4(PRPS1):c.762C>T (p.Ser254=) rs780750403
NM_002764.4(PRPS1):c.771T>C (p.Ala257=) rs1201162820
NM_002764.4(PRPS1):c.786C>T (p.Asn262=)
NM_002764.4(PRPS1):c.79C>T (p.Leu27=) rs1925241044
NM_002764.4(PRPS1):c.807A>G (p.Val269=) rs1461313913
NM_002764.4(PRPS1):c.810A>C (p.Val270=)
NM_002764.4(PRPS1):c.834G>A (p.Glu278=)
NM_002764.4(PRPS1):c.840G>A (p.Lys280=)
NM_002764.4(PRPS1):c.864+18G>C
NM_002764.4(PRPS1):c.864+9G>C rs2147686124
NM_002764.4(PRPS1):c.865-19T>C
NM_002764.4(PRPS1):c.865-19T>G
NM_002764.4(PRPS1):c.865-20T>G
NM_002764.4(PRPS1):c.867G>A (p.Val289=) rs2147687440
NM_002764.4(PRPS1):c.87G>A (p.Lys29=)
NM_002764.4(PRPS1):c.900C>T (p.Ile300=) rs1602908140
NM_002764.4(PRPS1):c.934C>T (p.Leu312=)
NM_002764.4(PRPS1):c.936A>G (p.Leu312=)
NM_002764.4(PRPS1):c.945T>C (p.His315=) rs2147687490
NM_002764.4(PRPS1):c.948C>T (p.Val316=) rs2147687492
NM_002764.4(PRPS1):c.96T>C (p.Thr32=)
NM_002764.4(PRPS1):c.99G>A (p.Lys33=) rs1602893298

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.