ClinVar Miner

List of variants in gene PCARE studied for PCARE-related retinopathy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188 0.29962
NM_001029883.3(PCARE):c.*27G>A rs10182566 0.28227
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540 0.15707
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765 0.15123
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175 0.00296
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363 0.00192
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00019
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln) rs201772623 0.00011
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184 0.00001
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter) rs748396645 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001029883.3(PCARE):c.1229del (p.Gln410fs) rs1667521303
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter) rs2148416171
NM_001029883.3(PCARE):c.1663del (p.Val555fs) rs2148416150
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter) rs1238711555
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) rs1667504255
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.2415del (p.Pro807fs) rs1412522034
NM_001029883.3(PCARE):c.2424del (p.Pro809fs) rs2148415628
NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter) rs1667483876
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser) rs2148415249
NM_001029883.3(PCARE):c.2967del (p.Val990fs) rs1667476173
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3039dup (p.Ser1014fs)
NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer)
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg) rs796065322
NM_001029883.3(PCARE):c.3108del (p.Arg1037fs)
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654
NM_001029883.3(PCARE):c.3668+2T>C rs1667454188
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter) rs2148416762
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) rs1420546201
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001029883.3(PCARE):c.938_946dup (p.Arg315_Asn316insThrLysArg)
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453

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