ClinVar Miner

List of variants reported as likely benign for cone-rod dystrophy 2

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.*1148G>C rs139073763 0.00126
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.*20C>T rs180775924 0.00042
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000554.6(CRX):c.22G>C (p.Gly8Arg) rs146240568 0.00023
NM_000554.6(CRX):c.309G>A (p.Gln103=) rs138242846 0.00023
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_000554.6(CRX):c.*6G>A rs375770558 0.00013
NM_000554.6(CRX):c.537G>A (p.Leu179=) rs753262074 0.00012
NM_000554.6(CRX):c.765C>T (p.Gly255=) rs145913500 0.00012
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_000554.6(CRX):c.*2040G>A rs139340702 0.00009
NM_000554.6(CRX):c.564C>T (p.Ser188=) rs148622001 0.00009
NM_000554.6(CRX):c.100+8C>T rs375411321 0.00007
NM_000554.6(CRX):c.159G>A (p.Glu53=) rs767773596 0.00007
NM_000554.6(CRX):c.253-11T>C rs199991284 0.00007
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000554.6(CRX):c.*16T>C rs371964860 0.00006
NM_000554.6(CRX):c.311A>G (p.Gln104Arg) rs769592519 0.00006
NM_000554.6(CRX):c.101-6C>T rs781316943 0.00005
NM_000554.6(CRX):c.369G>A (p.Thr123=) rs368752695 0.00005
NM_000554.6(CRX):c.552G>A (p.Pro184=) rs779118593 0.00005
NM_000554.6(CRX):c.606C>T (p.Cys202=) rs764877352 0.00005
NM_000554.6(CRX):c.774T>C (p.Tyr258=) rs767273026 0.00005
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_000554.6(CRX):c.42C>T (p.Asn14=) rs774344094 0.00004
NM_000554.6(CRX):c.585C>T (p.Tyr195=) rs373497612 0.00004
NM_000554.6(CRX):c.648C>T (p.Ser216=) rs772398140 0.00004
NM_000554.6(CRX):c.720C>G (p.Pro240=) rs748655180 0.00004
NM_000554.6(CRX):c.789C>T (p.Pro263=) rs550083287 0.00004
NM_000554.6(CRX):c.9G>A (p.Ala3=) rs140766502 0.00004
NM_005148.4(UNC119):c.*7G>A rs370209476 0.00004
NM_000554.6(CRX):c.100+13G>A rs770361425 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_000554.6(CRX):c.21G>A (p.Pro7=) rs772745666 0.00002
NM_000554.6(CRX):c.252+8G>C rs773348946 0.00002
NM_000554.6(CRX):c.253-16C>T rs372605680 0.00002
NM_000554.6(CRX):c.594C>T (p.Ala198=) rs1186532132 0.00002
NM_000554.6(CRX):c.747C>G (p.Ser249=) rs748748807 0.00002
NM_000554.6(CRX):c.195C>T (p.Asp65=) rs757731373 0.00001
NM_000554.6(CRX):c.273G>A (p.Arg91=) rs1254989456 0.00001
NM_000554.6(CRX):c.363G>A (p.Ala121=) rs141888455 0.00001
NM_000554.6(CRX):c.367A>G (p.Thr123Ala) rs755554804 0.00001
NM_000554.6(CRX):c.696G>A (p.Pro232=) rs1466177047 0.00001
NM_000554.6(CRX):c.726G>A (p.Val242=) rs371406142 0.00001
NM_000554.6(CRX):c.846C>A (p.Pro282=) rs1172429450 0.00001
NM_000554.6(CRX):c.101-10C>T
NM_000554.6(CRX):c.109A>C (p.Arg37=)
NM_000554.6(CRX):c.123G>A (p.Arg41=) rs181068147
NM_000554.6(CRX):c.129C>T (p.Arg43=) rs775065439
NM_000554.6(CRX):c.138C>T (p.Phe46=)
NM_000554.6(CRX):c.151C>T (p.Leu51=)
NM_000554.6(CRX):c.165G>A (p.Glu55=)
NM_000554.6(CRX):c.177C>T (p.Ala59=)
NM_000554.6(CRX):c.198C>T (p.Val66=)
NM_000554.6(CRX):c.213G>A (p.Glu71=)
NM_000554.6(CRX):c.216G>A (p.Val72=) rs2123739992
NM_000554.6(CRX):c.240G>A (p.Glu80=)
NM_000554.6(CRX):c.252+18_252+24del rs2123740025
NM_000554.6(CRX):c.270G>C (p.Arg90=)
NM_000554.6(CRX):c.339G>A (p.Lys113=) rs761978269
NM_000554.6(CRX):c.342C>T (p.Ala114=)
NM_000554.6(CRX):c.345G>A (p.Arg115=) rs1968162928
NM_000554.6(CRX):c.360G>A (p.Lys120=)
NM_000554.6(CRX):c.372C>A (p.Ser124=) rs755797220
NM_000554.6(CRX):c.390T>C (p.Asp130=)
NM_000554.6(CRX):c.406C>T (p.Leu136=)
NM_000554.6(CRX):c.408G>C (p.Leu136=)
NM_000554.6(CRX):c.441C>A (p.Pro147=)
NM_000554.6(CRX):c.441C>T (p.Pro147=) rs147422878
NM_000554.6(CRX):c.462C>T (p.Thr154=) rs2123743108
NM_000554.6(CRX):c.522G>A (p.Ala174=) rs376827106
NM_000554.6(CRX):c.52C>T (p.Leu18=)
NM_000554.6(CRX):c.534G>C (p.Gly178=)
NM_000554.6(CRX):c.543C>A (p.Ala181=)
NM_000554.6(CRX):c.555T>A (p.Ser185=)
NM_000554.6(CRX):c.60C>T (p.Gly20=)
NM_000554.6(CRX):c.633G>A (p.Pro211=)
NM_000554.6(CRX):c.678G>A (p.Val226=)
NM_000554.6(CRX):c.690G>T (p.Gly230=) rs936709261
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.777C>T (p.Gly259=)
NM_000554.6(CRX):c.786C>T (p.Ser262=)
NM_000554.6(CRX):c.81C>T (p.His27=) rs2123738329
NM_000554.6(CRX):c.852C>T (p.Asp284=) rs771721958
NM_000554.6(CRX):c.856C>T (p.Leu286=) rs2123743743
NM_000554.6(CRX):c.876T>C (p.Ser292=) rs2123743757
NM_000554.6(CRX):c.894C>A (p.Ile298=)
NM_005148.4(UNC119):c.*385T>C rs541479092
NM_005148.4(UNC119):c.509A>G (p.Gln170Arg) rs561712812
NM_005148.4(UNC119):c.586T>C (p.Phe196Leu) rs145972313

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.