List of variants reported as uncertain significance for Charcot-Marie-Tooth, Intermediate by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_018972.2(GDAP1):c.2730_2731insAA	rs886063120	0.00306
NM_018972.4(GDAP1):c.310+6del	rs780828430	0.00109
NM_003680.4(YARS1):c.414C>T (p.Ser138=)	rs762551221	0.00004
NM_018972.4(GDAP1):c.934_935insTA	rs368736368	0.00001
NM_000530.8(MPZ):c.*858T>C	rs886045473
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)	rs886045475
NM_001005361.3(DNM2):c.*312dup	rs886054146
NM_001362931.2(GDAP1):c.694+4057_694+4060dup	rs71563287
NM_001362931.2(GDAP1):c.694+4059_694+4060dup	rs71563287
NM_003680.4(YARS1):c.982T>C (p.Phe328Leu)	rs1057515512
NM_018972.2(GDAP1):c.*2553dup	rs886063118
NM_018972.2(GDAP1):c.2730_2731insAAA	rs886063120

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