ClinVar Miner

List of variants reported as benign for Intellectual disability, autosomal recessive 53

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.2261+49A>T rs7697650 0.97007
NM_001127178.3(PIGG):c.571-563A>G rs4690182 0.87699
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=) rs13150531 0.19173
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=) rs7666226 0.19160
NM_001127178.3(PIGG):c.2795T>C (p.Phe932Ser) rs1127410 0.19048
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg) rs7666425 0.18999
NM_001127178.3(PIGG):c.2642T>C (p.Ile881Thr) rs34623004 0.18791
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile) rs13114026 0.15552
NM_001127178.3(PIGG):c.1373G>A (p.Arg458His) rs13115344 0.12051
NM_001127178.3(PIGG):c.2191G>A (p.Val731Ile) rs34916638 0.03501
NM_001127178.3(PIGG):c.990T>C (p.Ser330=) rs11726338 0.02569
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01489
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778 0.00875
NM_001127178.3(PIGG):c.2069+16C>T rs144533568 0.00716
NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val) rs144879126 0.00498
NM_001127178.3(PIGG):c.1930G>A (p.Glu644Lys) rs114931121 0.00452
NM_001127178.3(PIGG):c.759+16G>A rs148792489 0.00403
NM_001127178.3(PIGG):c.771G>A (p.Thr257=) rs35496504 0.00322
NM_001127178.3(PIGG):c.1114+8A>G rs182522437 0.00233
NM_001127178.3(PIGG):c.1254G>A (p.Thr418=) rs139518242 0.00214
NM_001127178.3(PIGG):c.1581C>T (p.Thr527=) rs143989093 0.00179
NM_001127178.3(PIGG):c.1114+15C>T rs200262444 0.00159
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001127178.3(PIGG):c.902-16G>A rs187291662 0.00157
NM_001127178.3(PIGG):c.2150C>A (p.Ser717Tyr) rs117059276 0.00137
NM_001127178.3(PIGG):c.2085C>T (p.Ala695=) rs150774662 0.00107
NM_001127178.3(PIGG):c.2279G>A (p.Arg760His) rs200170221 0.00022
NM_001127178.3(PIGG):c.1594G>C (p.Gly532Arg) rs781714196 0.00012
NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=) rs148579497 0.00012
NM_001127178.3(PIGG):c.588G>A (p.Thr196=) rs149455987 0.00011
NM_001127178.3(PIGG):c.361-8G>T rs575862015 0.00004
NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser) rs201853289 0.00004
NM_001127178.3(PIGG):c.154+11dup rs782776784
NM_001127178.3(PIGG):c.1614+9G>A rs188737876
NM_001127178.3(PIGG):c.1614+9G>C rs188737876
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127178.3(PIGG):c.759+13G>A rs201035016

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.