ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2Q by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1897-1G>A rs760386662 0.00002
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter) rs201369986 0.00001
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe) rs777908204 0.00001

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