ClinVar Miner

List of variants in gene PPP1R12A studied for Genitourinary and/or brain malformation syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002480.3(PPP1R12A):c.2373G>C (p.Leu791=) rs2694657 0.21123
NM_002480.3(PPP1R12A):c.1189del (p.Thr397fs) rs1592661703
NM_002480.3(PPP1R12A):c.1510C>T (p.Arg504Ter) rs1356631664
NM_002480.3(PPP1R12A):c.1550+2T>C
NM_002480.3(PPP1R12A):c.1567C>T (p.Arg523Ter) rs761795743
NM_002480.3(PPP1R12A):c.2033_2034del (p.Glu677_Ser678insTer) rs1592629980
NM_002480.3(PPP1R12A):c.2166A>T (p.Gln722His)
NM_002480.3(PPP1R12A):c.2187del (p.Glu730fs) rs2137028448
NM_002480.3(PPP1R12A):c.2533C>T (p.Arg845Ter)
NM_002480.3(PPP1R12A):c.2604del (p.Glu868fs)
NM_002480.3(PPP1R12A):c.2676del (p.Ser893fs) rs1871420871
NM_002480.3(PPP1R12A):c.2677del (p.Ser893fs) rs1871420455
NM_002480.3(PPP1R12A):c.2698C>T (p.Arg900Ter) rs868109198
NM_002480.3(PPP1R12A):c.2789C>G (p.Thr930Ser) rs1871411076
NM_002480.3(PPP1R12A):c.2801del (p.Lys934fs) rs2136997832
NM_002480.3(PPP1R12A):c.2852del (p.His951fs)
NM_002480.3(PPP1R12A):c.3092A>T (p.Ter1031Leu)
NM_002480.3(PPP1R12A):c.329T>A (p.Leu110Gln)
NM_002480.3(PPP1R12A):c.466C>T (p.Gln156Ter) rs1879250715
NM_002480.3(PPP1R12A):c.508C>T (p.Arg170Ter)
NM_002480.3(PPP1R12A):c.522_523dup (p.Arg175fs)
NM_002480.3(PPP1R12A):c.647+2T>G
NM_002480.3(PPP1R12A):c.731AAG[2] (p.Glu246del)
NM_002480.3(PPP1R12A):c.768_769del (p.Cys256_Asp257delinsTer)
NM_002480.3(PPP1R12A):c.964A>C (p.Thr322Pro)
NM_002480.3(PPP1R12A):c.965_966insCC (p.Leu323fs)

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.