ClinVar Miner

List of variants in gene PTCH1 studied for Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000264.4(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899
NM_000264.4(PTCH1):c.181G>A (p.Ala61Thr) rs150069331
NM_000264.4(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573
NM_000264.4(PTCH1):c.2671G>A (p.Gly891Ser) rs570091335
NM_000264.4(PTCH1):c.3575G>A (p.Arg1192His) rs762040036
NM_000264.4(PTCH1):c.3734A>G (p.Gln1245Arg) rs767792734
NM_000264.4(PTCH1):c.37C>G (p.Arg13Gly) rs779791579
NM_000264.4(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.4(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967
NM_000264.4(PTCH1):c.4024C>T (p.Arg1342Cys) rs781539921
NM_000264.4(PTCH1):c.4043A>G (p.Asn1348Ser) rs371943557
NM_000264.4(PTCH1):c.4049G>A (p.Arg1350Gln)
NM_000264.4(PTCH1):c.4051A>G (p.Asn1351Asp) rs786204103
NM_000264.4(PTCH1):c.412C>T (p.Arg138Cys) rs139535966
NM_000264.4(PTCH1):c.4138G>A (p.Ala1380Thr)
NM_000264.4(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631
NM_000264.4(PTCH1):c.901G>A (p.Asp301Asn) rs767601899
NM_000264.4(PTCH1):c.949C>T (p.Leu317Phe)

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.