ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_001083602.2(PTCH1):c.*1075A>C rs1020973772
NM_001083602.2(PTCH1):c.*1220A>G rs930382710
NM_001083602.2(PTCH1):c.*1358G>A rs756098510
NM_001083602.2(PTCH1):c.*1413C>G rs1057515714
NM_001083602.2(PTCH1):c.*1648A>G rs1057515713
NM_001083602.2(PTCH1):c.*168C>A rs769353632
NM_001083602.2(PTCH1):c.*1866_*1867TG[12] rs59205702
NM_001083602.2(PTCH1):c.*186T>G rs977327674
NM_001083602.2(PTCH1):c.*1896T>C rs949498288
NM_001083602.2(PTCH1):c.*1904T>C rs992648722
NM_001083602.2(PTCH1):c.*2146A>G rs538345753
NM_001083602.2(PTCH1):c.*2276A>T rs868749157
NM_001083602.2(PTCH1):c.*2288dup rs548096592
NM_001083602.2(PTCH1):c.*2644A>C rs773680534
NM_001083602.2(PTCH1):c.*3080G>T rs1006981555
NM_001083602.2(PTCH1):c.*3209T>C rs757611119
NM_001083602.2(PTCH1):c.*3213T>C rs992312438
NM_001083602.2(PTCH1):c.*3272C>T rs963000528
NM_001083602.2(PTCH1):c.*3337T>C rs551093780
NM_001083602.2(PTCH1):c.*556G>A rs964764151
NM_001083602.2(PTCH1):c.*623C>T rs776158552
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1150-4G>A rs772826555
NM_001083602.2(PTCH1):c.1278A>G (p.Gly426=) rs1057515720
NM_001083602.2(PTCH1):c.1282T>G (p.Ser428Ala) rs1057515719
NM_001083602.2(PTCH1):c.1305+12G>A rs368083214
NM_001083602.2(PTCH1):c.1455G>A (p.Thr485=) rs766039170
NM_001083602.2(PTCH1):c.1512G>T (p.Leu504=) rs374924167
NM_001083602.2(PTCH1):c.2494G>A (p.Asp832Asn) rs531947455
NM_001083602.2(PTCH1):c.2589C>T (p.Asn863=) rs145196322
NM_001083602.2(PTCH1):c.2689+10G>A rs202081420
NM_001083602.2(PTCH1):c.3225G>A (p.Ala1075=) rs745948150
NM_001083602.2(PTCH1):c.3567C>A (p.Ile1189=) rs758229027
NM_001083602.2(PTCH1):c.3757C>T (p.Arg1253Cys) rs375998275
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3835C>T (p.Arg1279Cys) rs556901417
NM_001083602.2(PTCH1):c.3954G>A (p.Pro1318=) rs761887390
NM_001083602.2(PTCH1):c.4-1717G>A rs1057515721
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.4-1840G>A rs572958276
NM_001083602.2(PTCH1):c.851G>A (p.Ser284Asn) rs779294007
NM_001083602.2(PTCH1):c.922G>A (p.Glu308Lys) rs144323077

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.