ClinVar Miner

List of variants in gene LITAF studied for Charcot-Marie-Tooth disease

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Gene type:
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Total variants: 32
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HGVS dbSNP
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*149C>A rs571908546
NM_001136473.1(LITAF):c.*17-48C>A rs752383184
NM_001136473.1(LITAF):c.*173C>T rs768639690
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>C rs754821950
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser)
NM_001136473.1(LITAF):c.221-16C>T
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.377+3G>A
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) rs201352515

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