ClinVar Miner

List of variants in gene PRKCSH reported as likely benign by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_001289104.2(PRKCSH):c.469-10G>A rs188022793 0.00354
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) rs201337319 0.00125
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00077
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) rs142347308 0.00066
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=) rs143369158 0.00053
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=) rs200928002 0.00013
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val) rs138530475 0.00013
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=) rs770480368 0.00008
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=) rs374970694 0.00008
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=) rs777837737 0.00007
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=) rs147203239 0.00006
NM_001289104.2(PRKCSH):c.683+9C>A rs367735502 0.00006
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) rs539988285 0.00004
NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=) rs756127892 0.00002
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=) rs775357974 0.00002
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=) rs145740877 0.00001
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=) rs368596083 0.00001
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=) rs540593191
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=) rs149505716

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.