ClinVar Miner

List of variants in gene combination COL10A1, NT5DC1 reported as uncertain significance for Pyle disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000493.4(COL10A1):c.155-6T>C rs375384269 0.00034
NM_000493.4(COL10A1):c.*328del rs371155563
NM_000493.4(COL10A1):c.*328dup rs371155563

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