ClinVar Miner

List of variants in gene PCARE reported as pathogenic for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1949G>A (p.Trp650Ter) rs371289954 0.00003
NM_001029883.3(PCARE):c.458del (p.Thr153fs) rs1381325040 0.00002
NM_001029883.3(PCARE):c.1180G>T (p.Gly394Ter) rs902856341 0.00001
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184 0.00001
NM_001029883.3(PCARE):c.1273C>T (p.Arg425Ter) rs1439930038 0.00001
NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs) rs1196801124 0.00001
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025 0.00001
NM_001029883.3(PCARE):c.3099_3100insCAGG (p.Val1034fs) rs777717614 0.00001
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337 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.1040_1041del (p.Cys346_Ser347insTer) rs1667524759
NM_001029883.3(PCARE):c.1113G>A (p.Trp371Ter) rs745486206
NM_001029883.3(PCARE):c.1174C>T (p.Gln392Ter) rs2148416488
NM_001029883.3(PCARE):c.1220del (p.Gly407fs) rs2148416461
NM_001029883.3(PCARE):c.1333dup (p.Ser445fs) rs2148416373
NM_001029883.3(PCARE):c.1442_1443del (p.Leu481fs)
NM_001029883.3(PCARE):c.148del (p.Cys50fs) rs1302210262
NM_001029883.3(PCARE):c.1504_1505del (p.Leu502fs)
NM_001029883.3(PCARE):c.1516C>T (p.Gln506Ter) rs1667514184
NM_001029883.3(PCARE):c.1525dup (p.Thr509fs)
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1691G>A (p.Trp564Ter)
NM_001029883.3(PCARE):c.1714_1721del (p.Thr572fs)
NM_001029883.3(PCARE):c.1786_1789del (p.Glu597fs) rs766609529
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.1827del (p.Gln610fs)
NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter) rs886044003
NM_001029883.3(PCARE):c.1841_1848del (p.Arg614fs) rs2148416007
NM_001029883.3(PCARE):c.1883_1887del (p.Ala628fs) rs1667506537
NM_001029883.3(PCARE):c.1969del (p.Val657fs)
NM_001029883.3(PCARE):c.2056C>T (p.Gln686Ter)
NM_001029883.3(PCARE):c.2071del (p.His691fs)
NM_001029883.3(PCARE):c.2086C>T (p.Gln696Ter)
NM_001029883.3(PCARE):c.2159G>A (p.Trp720Ter)
NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs) rs886044002
NM_001029883.3(PCARE):c.223dup (p.Cys75fs)
NM_001029883.3(PCARE):c.2245_2263dup (p.Ala755delinsGlyLeuTer) rs2148415744
NM_001029883.3(PCARE):c.2298del (p.Arg767fs) rs1553354660
NM_001029883.3(PCARE):c.2328_2344del (p.Leu777fs)
NM_001029883.3(PCARE):c.2330del (p.Leu777fs) rs2148415700
NM_001029883.3(PCARE):c.2421del (p.Leu808fs) rs1667492589
NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter) rs886044135
NM_001029883.3(PCARE):c.258del (p.Asp88fs)
NM_001029883.3(PCARE):c.2654_2655dup (p.Val886fs) rs2148415467
NM_001029883.3(PCARE):c.2655del (p.Ser885_Val886insTer)
NM_001029883.3(PCARE):c.2665dup (p.Leu889fs) rs1558488513
NM_001029883.3(PCARE):c.2666dup (p.Asp890fs) rs2148415455
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.2780del (p.Pro927fs) rs2148415381
NM_001029883.3(PCARE):c.2789_2795del (p.Thr930fs)
NM_001029883.3(PCARE):c.2789_2795dup (p.Gln932fs) rs761147595
NM_001029883.3(PCARE):c.2906_2915dup (p.Ser973fs) rs755375197
NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs) rs1553354488
NM_001029883.3(PCARE):c.2960del (p.Ser987fs) rs778346520
NM_001029883.3(PCARE):c.2966del (p.Pro989fs) rs770881706
NM_001029883.3(PCARE):c.2966dup (p.Val990fs) rs770881706
NM_001029883.3(PCARE):c.2994del (p.Thr999fs) rs2148415202
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3049A>T (p.Arg1017Ter) rs1667472659
NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs) rs1558488002
NM_001029883.3(PCARE):c.3139C>T (p.Arg1047Ter) rs767286082
NM_001029883.3(PCARE):c.3149dup (p.Pro1051fs) rs750501256
NM_001029883.3(PCARE):c.3183del (p.Glu1062fs) rs757391015
NM_001029883.3(PCARE):c.3184G>T (p.Glu1062Ter)
NM_001029883.3(PCARE):c.3187_3188del (p.Ser1063fs)
NM_001029883.3(PCARE):c.3266dup (p.Ser1090fs) rs138020654
NM_001029883.3(PCARE):c.3314_3315del (p.Asp1104_Ser1105insTer) rs2148414919
NM_001029883.3(PCARE):c.3341_3342del (p.Lys1114fs)
NM_001029883.3(PCARE):c.3346_3349del (p.Ser1116fs) rs767188967
NM_001029883.3(PCARE):c.3388_3389del (p.Leu1130fs) rs1207964757
NM_001029883.3(PCARE):c.3413C>G (p.Ser1138Ter)
NM_001029883.3(PCARE):c.3488G>A (p.Trp1163Ter) rs763749755
NM_001029883.3(PCARE):c.3541_3542del (p.Leu1181fs) rs2148414753
NM_001029883.3(PCARE):c.388del (p.Ser130fs)
NM_001029883.3(PCARE):c.391G>T (p.Gly131Ter) rs2148416970
NM_001029883.3(PCARE):c.398_401del (p.Glu133fs)
NM_001029883.3(PCARE):c.402_405del (p.Ser134fs) rs762973163
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.487del (p.Thr163fs)
NM_001029883.3(PCARE):c.551A>G (p.His184Arg) rs774515390
NM_001029883.3(PCARE):c.679G>T (p.Glu227Ter)
NM_001029883.3(PCARE):c.716del (p.Asp239fs) rs1667533636
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001029883.3(PCARE):c.802C>T (p.Gln268Ter) rs866543181
NM_001029883.3(PCARE):c.824_827del (p.Val275fs)
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453
NM_001029883.3(PCARE):c.979C>T (p.Gln327Ter) rs2148416620
NM_001029883.3(PCARE):c.983_984del (p.Leu328fs) rs2148416614

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