ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease dominant intermediate B by Inherited Neuropathy Consortium Ii, University Of Miami

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1102G>C (p.Glu368Gln) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1124T>G (p.Val375Gly) rs587783594
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val) rs397514735
NM_001005361.3(DNM2):c.1196+666A>G rs2513236354
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly) rs587783596
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005361.3(DNM2):c.1618G>A (p.Glu540Lys) rs2513304416
NM_001005361.3(DNM2):c.1664_1671+1del rs1568314339
NM_001005361.3(DNM2):c.1675_1677del (p.Lys559del) rs1599620398
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn) rs2513348956
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1873_1875del (p.Val625del) rs2513349042
NM_001005361.3(DNM2):c.1880C>A (p.Pro627His) rs587783598
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.1885_1893+8del rs2513349078
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775

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