List of variants studied for Hermansky-Pudlak syndrome 9

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP
NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr)	rs374731803
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp)	rs1048656816
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)	rs1595552977
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)	rs775671194
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter)	rs201348482
NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr)	rs1595559213
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile)	rs574333116
NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr)	rs145762743
NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu)	rs1339131805
NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)	rs759015758
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)	rs775510569
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser)	rs138284359
NM_012388.3(BLOC1S6):c.82+10A>G	rs370370639
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn)
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu)
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)
NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=)	rs372182517
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)	rs772475341
NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=)	rs114872740
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)	rs1595560288
NM_012388.4(BLOC1S6):c.82+6del

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.