ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease, type 1C

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Total variants: 18
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HGVS dbSNP
NM_001136473.1(LITAF):c.*1978A>G rs759832566
NM_001136473.1(LITAF):c.*50C>T rs748118642
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu) rs765644026
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile) rs200702853
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.351G>C (p.Leu117=) rs372220196
NM_001136473.1(LITAF):c.377+13C>G rs200357430
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.45A>G (p.Ser15=) rs112192052
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) rs150211233
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481

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