ClinVar Miner

List of variants in gene PTCH1 reported by Clinical Genomics Lab,St. Jude Children's Research Hospital

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Total variants: 8
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1036G>A (p.Ala346Thr) rs370354759
NM_001083602.2(PTCH1):c.11C>T (p.Ala4Val) rs764137082
NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn) rs750373573
NM_001083602.2(PTCH1):c.4-1650G>A rs143494325
NM_001083602.2(PTCH1):c.4-1708G>A rs778460384
NM_001083602.2(PTCH1):c.4105G>A (p.Val1369Met) rs587778632
NM_001083602.2(PTCH1):c.5G>A (p.Gly2Glu) rs757430199
NM_001083602.2(PTCH1):c.830T>C (p.Val277Ala) rs962982192

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