ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 1C by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001136472.2(LITAF):c.330C>T (p.Asn110=) rs139116481 0.00062
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001136472.2(LITAF):c.32C>T (p.Thr11Ile) rs200702853 0.00025
NM_001136472.2(LITAF):c.108T>G (p.Pro36=) rs140990446 0.00024
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg) rs201283647 0.00020
NM_001136472.2(LITAF):c.241G>A (p.Val81Met) rs201653834 0.00018
NM_001136472.2(LITAF):c.27G>A (p.Ala9=) rs149518815 0.00008
NM_001136472.2(LITAF):c.147G>A (p.Thr49=) rs145659732 0.00006
NM_001136472.2(LITAF):c.45A>G (p.Ser15=) rs112192052 0.00006
NM_001136472.2(LITAF):c.54C>T (p.Ser18=) rs150211233 0.00006
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001136472.2(LITAF):c.96T>C (p.Tyr32=) rs756187413 0.00005
NM_001136472.2(LITAF):c.135G>A (p.Thr45=) rs758166691 0.00004
NM_001136472.2(LITAF):c.198G>A (p.Ala66=) rs146888937 0.00004
NM_001136472.2(LITAF):c.221-16C>T rs778890222 0.00004
NM_001136472.2(LITAF):c.179C>T (p.Ser60Leu) rs765644026 0.00003
NM_001136472.2(LITAF):c.225C>T (p.Thr75=) rs373639052 0.00003
NM_001136472.2(LITAF):c.240C>T (p.Tyr80=) rs149184234 0.00003
NM_001136472.2(LITAF):c.411C>T (p.Cys137=) rs748118642 0.00003
NM_001136472.2(LITAF):c.351G>C (p.Leu117=) rs372220196 0.00002
NM_001136472.2(LITAF):c.420C>T (p.Ala140=) rs750617013 0.00002
NM_001136472.2(LITAF):c.102C>A (p.Pro34=) rs369748649 0.00001
NM_001136472.2(LITAF):c.12A>G (p.Pro4=) rs760120748 0.00001
NM_001136472.2(LITAF):c.243G>A (p.Val81=) rs765108397 0.00001
NM_001136472.2(LITAF):c.25G>A (p.Ala9Thr) rs1267030887 0.00001
NM_001136472.2(LITAF):c.369C>T (p.Cys123=) rs762993631 0.00001
NM_001136472.2(LITAF):c.377+3G>A rs202181952 0.00001
NM_001136472.2(LITAF):c.399C>T (p.Phe133=) rs1012676457 0.00001
NM_001136472.2(LITAF):c.481T>C (p.Leu161=) rs376296739 0.00001
NM_001136472.2(LITAF):c.99C>T (p.Tyr33=) rs767658806 0.00001
NM_001136472.2(LITAF):c.129A>G (p.Pro43=)
NM_001136472.2(LITAF):c.217C>T (p.Pro73Ser)
NM_001136472.2(LITAF):c.220+12del
NM_001136472.2(LITAF):c.237C>G (p.Val79=)
NM_001136472.2(LITAF):c.270C>T (p.Arg90=)
NM_001136472.2(LITAF):c.285T>C (p.Cys95=)
NM_001136472.2(LITAF):c.309C>T (p.Ile103=)
NM_001136472.2(LITAF):c.327T>C (p.Tyr109=)
NM_001136472.2(LITAF):c.339T>C (p.Ala113=)
NM_001136472.2(LITAF):c.351G>T (p.Leu117=)
NM_001136472.2(LITAF):c.364C>T (p.Leu122=) rs104894522
NM_001136472.2(LITAF):c.377+10C>T rs2064215359
NM_001136472.2(LITAF):c.377+11C>T
NM_001136472.2(LITAF):c.377+15C>T
NM_001136472.2(LITAF):c.378-22GT[2]
NM_001136472.2(LITAF):c.378-7C>T rs969563231
NM_001136472.2(LITAF):c.381C>T (p.Cys127=)
NM_001136472.2(LITAF):c.387G>A (p.Ala129=)
NM_001136472.2(LITAF):c.39T>G (p.Pro13=) rs1597333130
NM_001136472.2(LITAF):c.429C>T (p.Asp143=)
NM_001136472.2(LITAF):c.462C>G (p.Leu154=)
NM_001136472.2(LITAF):c.468C>T (p.Gly156=) rs774123275
NM_001136472.2(LITAF):c.51A>G (p.Pro17=) rs751525365

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