ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2O by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.10574G>A (p.Arg3525His) rs2152592202
NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe) rs2047932647
NM_001376.5(DYNC1H1):c.1825A>G (p.Ile609Val)
NM_001376.5(DYNC1H1):c.2357G>A (p.Arg786His)
NM_001376.5(DYNC1H1):c.3015+17_3015+18delinsCT
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4699C>T (p.Arg1567Trp) rs377013246
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.9721A>G (p.Lys3241Glu)

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