ClinVar Miner

List of variants in gene PTRH2 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs) rs786201017
NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter) rs1268684924

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