ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease X-linked dominant 1 by Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln) rs1383588318 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280

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