ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
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.6G>A (p.Ser2=) rs147187481 0.00052
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001136472.2(LITAF):c.302A>G (p.Lys101Arg) rs201283647 0.00020
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_001136472.2(LITAF):c.*48C>T rs768639690 0.00006
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001136472.2(LITAF):c.221-16C>T rs778890222 0.00004
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys) rs748017885 0.00002
NM_001136472.2(LITAF):c.479G>A (p.Arg160His) rs864622744 0.00002
NM_001136472.2(LITAF):c.269G>A (p.Arg90His) rs200789696 0.00001
NM_001136472.2(LITAF):c.377+3G>A rs202181952 0.00001
NM_001136472.2(LITAF):c.378-48C>A rs752383184 0.00001
NM_001136472.2(LITAF):c.*24C>A rs571908546
NM_001136472.2(LITAF):c.199C>T (p.Pro67Ser) rs2064271547
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136472.2(LITAF):c.377+1760_377+1763inv
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser) rs281865135
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg) rs797044848
NM_001136472.2(LITAF):c.412G>A (p.Val138Met) rs780788687
NM_001136472.2(LITAF):c.418G>C (p.Ala140Pro) rs754821950
NM_001136472.2(LITAF):c.430G>A (p.Val144Met) rs121908615
NM_001136472.2(LITAF):c.86T>G (p.Val29Gly) rs201352515

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