ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Short stature; Failure to thrive; Abnormality of the dentition; Microcephaly; Abnormality of dental enamel; Hyperpigmentation of the skin; Alopecia of scalp; Distal muscle weakness; EMG abnormality; Decreased body weight; Scarring alopecia of scalp; Abnormal blistering of the skin; Nail dystrophy; Scarring

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.706C>T rs121912854

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