ClinVar Miner

List of variants studied for Peripheral axonal neuropathy

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_006329.4(FBLN5):c.889C>G (p.His297Asp) rs777077185 0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489 0.00001
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_015271.5(TRIM2):c.1918G>T (p.Gly640Cys) rs1579721449
NM_177402.5(SYT2):c.322A>G (p.Met108Val) rs1572614757

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