ClinVar Miner

List of variants in gene PSEN1 reported as likely benign for hidradenitis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707 0.00037
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_000021.4(PSEN1):c.711T>C (p.Phe237=) rs750352441 0.00016
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala) rs200373970 0.00015
NM_000021.4(PSEN1):c.234C>T (p.Gly78=) rs143782428 0.00012
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=) rs201496204 0.00009
NM_000021.4(PSEN1):c.366C>T (p.Thr122=) rs201644344 0.00008
NM_000021.4(PSEN1):c.480+17G>A rs375376095 0.00008
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_000021.4(PSEN1):c.1347A>G (p.Thr449=) rs199632597 0.00006
NM_000021.4(PSEN1):c.337C>T (p.Leu113=) rs201500006 0.00006
NM_000021.4(PSEN1):c.909G>A (p.Pro303=) rs377053325 0.00006
NM_000021.4(PSEN1):c.96T>C (p.Asn32=) rs201759335 0.00006
NM_000021.4(PSEN1):c.459G>T (p.Leu153=) rs753457678 0.00004
NM_000021.4(PSEN1):c.21G>A (p.Pro7=) rs116466962 0.00003
NM_000021.4(PSEN1):c.1311C>T (p.Ile437=) rs201453174 0.00002
NM_000021.4(PSEN1):c.501T>C (p.Ile167=) rs199637432 0.00002
NM_000021.4(PSEN1):c.813G>T (p.Leu271=) rs757698754 0.00002
NM_000021.4(PSEN1):c.161G>A (p.Arg54Gln) rs201216284 0.00001
NM_000021.4(PSEN1):c.264T>C (p.Pro88=) rs201113902 0.00001
NM_000021.4(PSEN1):c.339A>G (p.Leu113=) rs1382127121 0.00001
NM_000021.4(PSEN1):c.798T>A (p.Gly266=) rs752833058 0.00001
NM_000021.4(PSEN1):c.801A>G (p.Pro267=) rs758814165 0.00001
NM_000021.4(PSEN1):c.80G>A (p.Arg27His) rs149562759 0.00001
NM_000021.4(PSEN1):c.956-20A>C rs763638380 0.00001
NM_000021.4(PSEN1):c.-136+213G>A rs199959804
NM_000021.4(PSEN1):c.1005G>T (p.Gly335=)
NM_000021.4(PSEN1):c.1055G>A (p.Arg352His)
NM_000021.4(PSEN1):c.1063C>T (p.Pro355Ser) rs376433615
NM_000021.4(PSEN1):c.1071A>G (p.Ser357=)
NM_000021.4(PSEN1):c.1107C>T (p.Leu369=)
NM_000021.4(PSEN1):c.1130-10T>C
NM_000021.4(PSEN1):c.1130-13del
NM_000021.4(PSEN1):c.177C>A (p.Ser59=)
NM_000021.4(PSEN1):c.177C>T (p.Ser59=) rs201998552
NM_000021.4(PSEN1):c.213G>A (p.Glu71=) rs762907738
NM_000021.4(PSEN1):c.234C>A (p.Gly78=)
NM_000021.4(PSEN1):c.255C>A (p.Leu85=)
NM_000021.4(PSEN1):c.426C>T (p.Val142=)
NM_000021.4(PSEN1):c.435C>T (p.Val145=) rs202090424
NM_000021.4(PSEN1):c.453G>T (p.Val151=)
NM_000021.4(PSEN1):c.468C>T (p.Tyr156=)
NM_000021.4(PSEN1):c.480+20C>T
NM_000021.4(PSEN1):c.481-13C>T
NM_000021.4(PSEN1):c.481-4C>G
NM_000021.4(PSEN1):c.537C>T (p.Phe179=)
NM_000021.4(PSEN1):c.548+13A>G
NM_000021.4(PSEN1):c.549-19C>A rs201724748
NM_000021.4(PSEN1):c.738G>A (p.Ala246=)
NM_000021.4(PSEN1):c.770-17T>C
NM_000021.4(PSEN1):c.774A>G (p.Leu258=)
NM_000021.4(PSEN1):c.792G>A (p.Pro264=)
NM_000021.4(PSEN1):c.792G>T (p.Pro264=) rs150301281
NM_000021.4(PSEN1):c.868+16_868+21del
NM_000021.4(PSEN1):c.87+11_87+14dup
NM_000021.4(PSEN1):c.88-7C>T rs1594997672
NM_000021.4(PSEN1):c.906C>T (p.Asp302=)
NM_000021.4(PSEN1):c.955+11T>G
NM_000021.4(PSEN1):c.955+16T>G
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)

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.