ClinVar Miner

List of variants in gene PTCHD1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_173495.3(PTCHD1):c.858T>C (p.Cys286=) rs5926304 0.67668
NM_173495.3(PTCHD1):c.93G>A (p.Ala31=) rs12014412 0.03486
NM_173495.3(PTCHD1):c.336C>T (p.Thr112=) rs369975097 0.00032
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) rs369968343 0.00011
NM_173495.3(PTCHD1):c.1080T>G (p.Val360=) rs375720878 0.00007

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