ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 1C

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NM_001136473.1(LITAF):c.*107C>T
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*43C>T
NM_001136473.1(LITAF):c.*49G>A
NM_001136473.1(LITAF):c.*51G>A
NM_001136473.1(LITAF):c.*57G>A
NM_001136473.1(LITAF):c.*63C>T
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.135G>A (p.Thr45=)
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.17-3C>T
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala)
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala)
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys)
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu)
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479

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