ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group C by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.2033+1G>A rs764480429 0.00002
NM_004628.5(XPC):c.2215GAG[1] (p.Glu740del) rs776958968

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