List of variants in gene PCARE studied for Retinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 101

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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.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.1262A>G (p.Lys421Arg)	rs17007544	0.05074
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=)	rs144569618	0.02252
NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=)	rs115730331	0.00993
NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr)	rs75276619	0.00938
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)	rs187333111	0.00365
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)	rs184249075	0.00126
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)	rs184644658	0.00106
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys)	rs80151896	0.00051
NM_001029883.3(PCARE):c.102C>T (p.Gly34=)	rs149915190	0.00041
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu)	rs201933656	0.00033
NM_001029883.3(PCARE):c.1453G>A (p.Glu485Lys)	rs371845764	0.00031
NM_001029883.3(PCARE):c.959G>A (p.Arg320His)	rs201617661	0.00029
NM_001029883.3(PCARE):c.531G>A (p.Pro177=)	rs200914951	0.00016
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)	rs182812191	0.00013
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)	rs200817926	0.00009
NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln)	rs763441352	0.00008
NM_001029883.3(PCARE):c.2083G>A (p.Glu695Lys)	rs769814461	0.00007
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)	rs202166083	0.00006
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)	rs187119693	0.00005
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His)	rs375769419	0.00005
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr)	rs377498611	0.00004
NM_001029883.3(PCARE):c.1395G>A (p.Val465=)	rs757428273	0.00004
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)	rs189904739	0.00004
NM_001029883.3(PCARE):c.2811G>A (p.Lys937=)	rs900634939	0.00003
NM_001029883.3(PCARE):c.3152C>T (p.Pro1051Leu)	rs543584326	0.00003
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)	rs756152942	0.00002
NM_001029883.3(PCARE):c.358G>C (p.Gly120Arg)	rs140625913	0.00002
NM_001029883.3(PCARE):c.407A>G (p.Glu136Gly)	rs761117759	0.00002
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)	rs201706430	0.00002
NM_001029883.3(PCARE):c.1137A>G (p.Glu379=)	rs755968619	0.00001
NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs)	rs1196801124	0.00001
NM_001029883.3(PCARE):c.178G>A (p.Glu60Lys)	rs1427138896	0.00001
NM_001029883.3(PCARE):c.2570A>C (p.Asn857Thr)	rs758364172	0.00001
NM_001029883.3(PCARE):c.2590G>A (p.Glu864Lys)	rs1013795356	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.100G>A (p.Gly34Ser)
NM_001029883.3(PCARE):c.116G>T (p.Gly39Val)
NM_001029883.3(PCARE):c.1218A>T (p.Ser406=)
NM_001029883.3(PCARE):c.1405C>T (p.Leu469Phe)
NM_001029883.3(PCARE):c.1490T>G (p.Met497Arg)
NM_001029883.3(PCARE):c.1525del (p.Thr509fs)	rs753619551
NM_001029883.3(PCARE):c.1757G>A (p.Arg586Lys)
NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs)	rs1667506537
NM_001029883.3(PCARE):c.1944C>T (p.Ala648=)	rs746635522
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs)	rs1667504255
NM_001029883.3(PCARE):c.2092A>T (p.Lys698Ter)
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
NM_001029883.3(PCARE):c.2400C>G (p.Pro800=)
NM_001029883.3(PCARE):c.2462G>A (p.Cys821Tyr)	rs748121789
NM_001029883.3(PCARE):c.2482G>A (p.Glu828Lys)
NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr)	rs370203821
NM_001029883.3(PCARE):c.2665dup (p.Leu889fs)	rs1558488513
NM_001029883.3(PCARE):c.2714G>A (p.Ser905Asn)
NM_001029883.3(PCARE):c.2751del (p.Arg918fs)	rs1182748194
NM_001029883.3(PCARE):c.2765T>C (p.Leu922Pro)
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs)	rs761147595
NM_001029883.3(PCARE):c.2841C>T (p.Ala947=)
NM_001029883.3(PCARE):c.2868G>A (p.Lys956=)
NM_001029883.3(PCARE):c.294C>G (p.Thr98=)
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala)	rs184281410
NM_001029883.3(PCARE):c.2980G>A (p.Ala994Thr)
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs)	rs527236056
NM_001029883.3(PCARE):c.2993G>T (p.Arg998Met)
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	rs367658438
NM_001029883.3(PCARE):c.3216C>A (p.Ser1072Arg)
NM_001029883.3(PCARE):c.3239C>T (p.Ala1080Val)
NM_001029883.3(PCARE):c.3271C>T (p.Pro1091Ser)	rs775685036
NM_001029883.3(PCARE):c.3316G>T (p.Glu1106Ter)
NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile)	rs1667463778
NM_001029883.3(PCARE):c.3358_3359del (p.His1120fs)
NM_001029883.3(PCARE):c.3469G>A (p.Gly1157Arg)	rs755486918
NM_001029883.3(PCARE):c.351G>C (p.Lys117Asn)
NM_001029883.3(PCARE):c.3526C>T (p.Gln1176Ter)
NM_001029883.3(PCARE):c.3530G>A (p.Arg1177Gln)	rs375826049
NM_001029883.3(PCARE):c.3567C>T (p.Phe1189=)
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001029883.3(PCARE):c.3678G>A (p.Glu1226=)
NM_001029883.3(PCARE):c.3696C>A (p.Asp1232Glu)
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)	rs78471512
NM_001029883.3(PCARE):c.3807C>T (p.Thr1269=)
NM_001029883.3(PCARE):c.397G>T (p.Glu133Ter)
NM_001029883.3(PCARE):c.402T>G (p.Ser134Arg)	rs1667541157
NM_001029883.3(PCARE):c.402_405del (p.Ser134fs)	rs762973163
NM_001029883.3(PCARE):c.568del (p.Tyr190fs)
NM_001029883.3(PCARE):c.570T>G (p.Tyr190Ter)
NM_001029883.3(PCARE):c.571_572insAGGCTTACACCAGCAGGCT (p.Leu191fs)
NM_001029883.3(PCARE):c.668T>C (p.Leu223Pro)
NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)	rs750987123
NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter)	rs866543181
NM_001029883.3(PCARE):c.824dup (p.Ser276fs)
NM_001029883.3(PCARE):c.845_865del (p.Asn282_Leu288del)	rs1667528912
NM_001029883.3(PCARE):c.852A>G (p.Thr284=)
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)	rs1420546201

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