ClinVar Miner

List of variants reported as likely benign for Pyle disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.*13del rs201694987 0.04951
NM_000493.4(COL10A1):c.*833T>C rs186945460 0.00259
NM_000493.4(COL10A1):c.*315dup rs530914126
NM_000493.4(COL10A1):c.*553del rs201240595

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