ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2U

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004990.4(MARS1):c.1369-7A>C rs377050640 0.00016
NM_004990.4(MARS1):c.2447G>A (p.Arg816His) rs150482634 0.00002
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1392dup (p.Leu465fs) rs2140033743
NM_004990.4(MARS1):c.2114dup (p.Leu705fs) rs777324495
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn) rs1594838677
NM_004990.4(MARS1):c.916C>T (p.Leu306Phe)

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