ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534
NM_001376.5(DYNC1H1):c.3961-2A>G rs1595608413
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp) rs1595597572
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn) rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met) rs373682811

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