ClinVar Miner

List of variants reported as likely pathogenic for Hermansky-Pudlak syndrome 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) rs373272174 0.00002
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter) rs753804000 0.00001
NM_024747.6(HPS6):c.155del (p.Val52fs) rs1590262450 0.00001
NM_024747.6(HPS6):c.1819C>T (p.Arg607Ter) rs377169467 0.00001
NM_024747.6(HPS6):c.466_475dup (p.Phe159fs) rs1462863412 0.00001
NM_024747.6(HPS6):c.1086del (p.Met363fs)
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter) rs2540987646
NM_024747.6(HPS6):c.1228_1252del (p.Tyr410fs) rs760452661
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter) rs199891110
NM_024747.6(HPS6):c.1612dup (p.Gln538fs)
NM_024747.6(HPS6):c.1674del (p.Asn559fs) rs764867254
NM_024747.6(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) rs940319528
NM_024747.6(HPS6):c.1784G>A (p.Trp595Ter)
NM_024747.6(HPS6):c.1789del (p.Ala597fs) rs1383241620
NM_024747.6(HPS6):c.19_20del (p.Leu7fs) rs1590262288
NM_024747.6(HPS6):c.1A>T (p.Met1Leu)
NM_024747.6(HPS6):c.206_210dup (p.Trp71fs) rs2136333791
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.6(HPS6):c.27del (p.Leu10fs) rs2540985942
NM_024747.6(HPS6):c.327del (p.Pro110fs)
NM_024747.6(HPS6):c.32C>A (p.Ser11Ter)
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) rs2067964057
NM_024747.6(HPS6):c.452del (p.Pro151fs)
NM_024747.6(HPS6):c.560dup (p.His187fs) rs1412405724
NM_024747.6(HPS6):c.877C>T (p.Gln293Ter) rs2136334341

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.