ClinVar Miner

List of variants in gene LITAF reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.220+42C>T rs3743582 0.44408
NM_001136472.2(LITAF):c.*1251A>G rs7102 0.36899
NM_001136472.2(LITAF):c.*796T>C rs1198 0.18402
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001136472.2(LITAF):c.-6+594A>G rs12921437 0.13319
NM_001136472.2(LITAF):c.*1415C>A rs80119580 0.03674
NM_001136472.2(LITAF):c.*816T>A rs7187810 0.03432
NM_001136472.2(LITAF):c.*421C>T rs13336723 0.02660
NM_001136472.2(LITAF):c.*143C>T rs1801977 0.02394
NM_001136472.2(LITAF):c.*439G>A rs13337025 0.02310
NM_001136472.2(LITAF):c.*711G>T rs117082330 0.01448
NM_001136472.2(LITAF):c.*1493T>G rs77423500 0.01358
NM_001136472.2(LITAF):c.*933C>T rs75472256 0.01353
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_001136472.2(LITAF):c.*99C>T rs149712652 0.00476
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_001136472.2(LITAF):c.330C>T (p.Asn110=) rs139116481 0.00062
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_001136472.2(LITAF):c.6G>A (p.Ser2=) rs147187481 0.00052
NM_001136472.2(LITAF):c.*1627G>A rs62022848 0.00025
NM_001136472.2(LITAF):c.*904G>A rs192766322 0.00024
NM_001136472.2(LITAF):c.*1632C>G rs74808365 0.00009
NM_001136472.2(LITAF):c.-6+558C>T rs528624227 0.00003
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_001136472.2(LITAF):c.*453C>A rs192516633

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