List of variants reported as uncertain significance for Charcot-Marie-Tooth disease dominant intermediate B by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001005361.3(DNM2):c.*185A>C	rs570774479	0.00135
NM_001005361.3(DNM2):c.*82C>T	rs569502521	0.00036
NM_001005361.3(DNM2):c.*88C>G	rs886054143	0.00035
NM_001005361.3(DNM2):c.*79G>A	rs550692861	0.00020
NM_001005361.3(DNM2):c.*391C>T	rs886054147	0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)	rs200191870	0.00009
NM_001005361.3(DNM2):c.*373G>A	rs906210543	0.00006
NM_001005361.3(DNM2):c.-116C>T	rs966672075	0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)	rs200968756	0.00004
NM_001005361.3(DNM2):c.1423-9C>G	rs371006369	0.00003
NM_001005361.3(DNM2):c.162-9C>A	rs200736669	0.00003
NM_001005361.3(DNM2):c.*106T>C	rs886054144	0.00001
NM_001005361.3(DNM2):c.*214C>T	rs1271831719	0.00001
NM_001005361.3(DNM2):c.-153G>T	rs886054138	0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val)	rs766613900	0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)	rs759366882	0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met)	rs372876881	0.00001
NM_001005361.3(DNM2):c.1782-6C>T	rs963604980	0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)	rs746025991	0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)	rs779081943	0.00001
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser)	rs886054141	0.00001
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)	rs927749691	0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)	rs1217925152	0.00001
NM_001005361.3(DNM2):c.*166G>A	rs886054145
NM_001005361.3(DNM2):c.*379C>T	rs953057550
NM_001005361.3(DNM2):c.*550G>A	rs886054148
NM_001005361.3(DNM2):c.*711T>C	rs886054149
NM_001005361.3(DNM2):c.*716C>T	rs2073353055
NM_001005361.3(DNM2):c.*751T>A	rs2073354083
NM_001005361.3(DNM2):c.-122G>A	rs886054139
NM_001005361.3(DNM2):c.-19G>T	rs753599004
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val)	rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)	rs745748213
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser)	rs886054140
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)	rs1360529572
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)	rs2073288383
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)	rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)	rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val)	rs776073354
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)	rs2071432774

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