ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.1743+37T>C rs145285316 0.00285
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His) rs144781228 0.00154
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619 0.00107
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787 0.00020
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694 0.00015
NM_153240.5(NPHP3):c.2166C>T (p.Ile722=) rs368406864 0.00006
NM_153240.5(NPHP3):c.2172-12C>T rs886038736 0.00006
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=) rs781244729 0.00004
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153240.5(NPHP3):c.394-18C>G rs886038737 0.00004
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00003
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_153240.5(NPHP3):c.2171+8G>A rs147825615 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 0.00001
NM_153240.5(NPHP3):c.1985+4C>T rs752335903 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 0.00001
NM_153240.5(NPHP3):c.823+30C>T rs568393639 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.987C>T (p.Cys329=) rs138124482 0.00001
NM_153240.5(NPHP3):c.-9A>G
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met) rs771804922
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.2232T>G (p.Thr744=)
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2466A>G (p.Gln822=)
NM_153240.5(NPHP3):c.2694-7G>A
NM_153240.5(NPHP3):c.2884-8C>A rs757300023
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)
NM_153240.5(NPHP3):c.328T>C (p.Leu110=)
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153240.5(NPHP3):c.393+8del
NM_153240.5(NPHP3):c.394-4C>A
NM_153240.5(NPHP3):c.531G>A (p.Glu177=)
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.912C>T (p.Leu304=)

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.