ClinVar Miner

List of variants in gene PCARE reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP
NC_000002.11:g.29287932_29287933insGCC
NM_001029883.3(PCARE):c.1008C>T (p.Gly336=)
NM_001029883.3(PCARE):c.1009G>A (p.Asp337Asn)
NM_001029883.3(PCARE):c.1044G>A (p.Glu348=)
NM_001029883.3(PCARE):c.1065C>G (p.Asp355Glu)
NM_001029883.3(PCARE):c.1088A>G (p.Asp363Gly)
NM_001029883.3(PCARE):c.1094_1102del (p.Leu365_Lys367del)
NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) rs201284350
NM_001029883.3(PCARE):c.1121C>G (p.Ala374Gly)
NM_001029883.3(PCARE):c.1140G>T (p.Trp380Cys)
NM_001029883.3(PCARE):c.1160A>C (p.His387Pro)
NM_001029883.3(PCARE):c.1187C>T (p.Thr396Ile)
NM_001029883.3(PCARE):c.121A>G (p.Ile41Val)
NM_001029883.3(PCARE):c.122T>A (p.Ile41Asn)
NM_001029883.3(PCARE):c.1233C>G (p.Asp411Glu)
NM_001029883.3(PCARE):c.1250C>A (p.Ala417Asp)
NM_001029883.3(PCARE):c.1274G>A (p.Arg425Gln)
NM_001029883.3(PCARE):c.1285G>A (p.Glu429Lys)
NM_001029883.3(PCARE):c.1313C>G (p.Thr438Arg)
NM_001029883.3(PCARE):c.1316G>A (p.Ser439Asn)
NM_001029883.3(PCARE):c.1360A>C (p.Thr454Pro)
NM_001029883.3(PCARE):c.1370A>T (p.Asp457Val)
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr) rs377498611
NM_001029883.3(PCARE):c.1385G>A (p.Gly462Glu)
NM_001029883.3(PCARE):c.1395G>A (p.Val465=)
NM_001029883.3(PCARE):c.1424C>A (p.Pro475Gln)
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr)
NM_001029883.3(PCARE):c.1453G>A (p.Glu485Lys)
NM_001029883.3(PCARE):c.1465C>T (p.Pro489Ser)
NM_001029883.3(PCARE):c.1477G>C (p.Glu493Gln)
NM_001029883.3(PCARE):c.148T>C (p.Cys50Arg)
NM_001029883.3(PCARE):c.1492A>T (p.Ser498Cys)
NM_001029883.3(PCARE):c.1525A>G (p.Thr509Ala)
NM_001029883.3(PCARE):c.1550C>T (p.Ser517Leu)
NM_001029883.3(PCARE):c.157G>T (p.Ala53Ser)
NM_001029883.3(PCARE):c.1583G>C (p.Arg528Pro)
NM_001029883.3(PCARE):c.1601G>T (p.Ser534Ile)
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys) rs200809211
NM_001029883.3(PCARE):c.1676G>T (p.Cys559Phe)
NM_001029883.3(PCARE):c.1684C>A (p.Gln562Lys)
NM_001029883.3(PCARE):c.1697AGG[3] (p.Glu569del)
NM_001029883.3(PCARE):c.1697AGG[5] (p.Glu569dup)
NM_001029883.3(PCARE):c.1748G>A (p.Gly583Asp)
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp) rs151202941
NM_001029883.3(PCARE):c.1793C>T (p.Ser598Leu)
NM_001029883.3(PCARE):c.1810G>A (p.Val604Met)
NM_001029883.3(PCARE):c.1823C>A (p.Thr608Asn)
NM_001029883.3(PCARE):c.1838G>A (p.Arg613Gln)
NM_001029883.3(PCARE):c.1873G>A (p.Ala625Thr)
NM_001029883.3(PCARE):c.1897GGGCAG[3] (p.633GQ[3])
NM_001029883.3(PCARE):c.1928A>G (p.Gln643Arg)
NM_001029883.3(PCARE):c.1945G>A (p.Val649Met)
NM_001029883.3(PCARE):c.1951C>T (p.Pro651Ser)
NM_001029883.3(PCARE):c.195G>C (p.Arg65Ser)
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758
NM_001029883.3(PCARE):c.1996C>T (p.Leu666Phe)
NM_001029883.3(PCARE):c.199A>G (p.Asn67Asp)
NM_001029883.3(PCARE):c.202C>A (p.Gln68Lys)
NM_001029883.3(PCARE):c.2112_2113inv (p.Ala705Thr)
NM_001029883.3(PCARE):c.211G>C (p.Ala71Pro)
NM_001029883.3(PCARE):c.2125G>A (p.Gly709Arg)
NM_001029883.3(PCARE):c.217G>A (p.Gly73Ser)
NM_001029883.3(PCARE):c.2183G>C (p.Arg728Thr)
NM_001029883.3(PCARE):c.2222C>T (p.Thr741Met)
NM_001029883.3(PCARE):c.2234G>A (p.Arg745Lys)
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr) rs371979312
NM_001029883.3(PCARE):c.2263G>A (p.Ala755Thr)
NM_001029883.3(PCARE):c.2273G>A (p.Cys758Tyr)
NM_001029883.3(PCARE):c.2323G>A (p.Ala775Thr)
NM_001029883.3(PCARE):c.2336C>A (p.Pro779Gln)
NM_001029883.3(PCARE):c.2336C>T (p.Pro779Leu)
NM_001029883.3(PCARE):c.2371T>A (p.Ser791Thr)
NM_001029883.3(PCARE):c.238G>T (p.Asp80Tyr)
NM_001029883.3(PCARE):c.2402T>C (p.Leu801Ser)
NM_001029883.3(PCARE):c.2420C>G (p.Pro807Arg)
NM_001029883.3(PCARE):c.2449G>C (p.Glu817Gln)
NM_001029883.3(PCARE):c.2462G>A (p.Cys821Tyr)
NM_001029883.3(PCARE):c.2485C>T (p.His829Tyr)
NM_001029883.3(PCARE):c.2520C>A (p.Asp840Glu)
NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr)
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.2570A>C (p.Asn857Thr)
NM_001029883.3(PCARE):c.2591A>G (p.Glu864Gly)
NM_001029883.3(PCARE):c.2615C>T (p.Pro872Leu)
NM_001029883.3(PCARE):c.2639C>T (p.Pro880Leu)
NM_001029883.3(PCARE):c.2666T>C (p.Leu889Pro)
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr) rs771188017
NM_001029883.3(PCARE):c.2707C>T (p.Pro903Ser)
NM_001029883.3(PCARE):c.2711A>G (p.His904Arg)
NM_001029883.3(PCARE):c.2744G>A (p.Cys915Tyr)
NM_001029883.3(PCARE):c.2796A>C (p.Gln932His) rs794726891
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) rs200817926
NM_001029883.3(PCARE):c.280C>T (p.Pro94Ser)
NM_001029883.3(PCARE):c.2811G>C (p.Lys937Asn)
NM_001029883.3(PCARE):c.2813G>A (p.Gly938Asp)
NM_001029883.3(PCARE):c.2825G>A (p.Ser942Asn)
NM_001029883.3(PCARE):c.2839G>A (p.Ala947Thr)
NM_001029883.3(PCARE):c.2893C>T (p.Pro965Ser)
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln)
NM_001029883.3(PCARE):c.2956A>G (p.Arg986Gly)
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr) rs184281410
NM_001029883.3(PCARE):c.298T>C (p.Ser100Pro)
NM_001029883.3(PCARE):c.3023G>A (p.Arg1008Lys)
NM_001029883.3(PCARE):c.3026G>A (p.Arg1009His)
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln)
NM_001029883.3(PCARE):c.3032_3046dup (p.Tyr1016_Arg1017insCysLeuProSerSer) rs1293436955
NM_001029883.3(PCARE):c.3033C>A (p.Ser1011Arg)
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567
NM_001029883.3(PCARE):c.3052C>G (p.Pro1018Ala)
NM_001029883.3(PCARE):c.3083C>T (p.Thr1028Met)
NM_001029883.3(PCARE):c.308T>C (p.Leu103Pro)
NM_001029883.3(PCARE):c.3112G>A (p.Val1038Met)
NM_001029883.3(PCARE):c.3137G>A (p.Arg1046Gln)
NM_001029883.3(PCARE):c.3140G>A (p.Arg1047Gln)
NM_001029883.3(PCARE):c.3160C>T (p.Pro1054Ser)
NM_001029883.3(PCARE):c.3184G>A (p.Glu1062Lys)
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg)
NM_001029883.3(PCARE):c.3212C>G (p.Pro1071Arg)
NM_001029883.3(PCARE):c.3244C>G (p.Pro1082Ala)
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu)
NM_001029883.3(PCARE):c.3266C>T (p.Pro1089Leu)
NM_001029883.3(PCARE):c.3271C>A (p.Pro1091Thr)
NM_001029883.3(PCARE):c.3271C>G (p.Pro1091Ala)
NM_001029883.3(PCARE):c.331G>A (p.Ala111Thr)
NM_001029883.3(PCARE):c.3321C>G (p.Asp1107Glu)
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)
NM_001029883.3(PCARE):c.3407C>T (p.Pro1136Leu)
NM_001029883.3(PCARE):c.3412T>C (p.Ser1138Pro)
NM_001029883.3(PCARE):c.3431C>T (p.Thr1144Ile)
NM_001029883.3(PCARE):c.3437C>A (p.Pro1146Gln)
NM_001029883.3(PCARE):c.3440C>T (p.Ser1147Leu)
NM_001029883.3(PCARE):c.3461G>C (p.Gly1154Ala)
NM_001029883.3(PCARE):c.3487T>C (p.Trp1163Arg)
NM_001029883.3(PCARE):c.3512T>C (p.Leu1171Pro)
NM_001029883.3(PCARE):c.3524C>T (p.Ser1175Leu)
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp) rs201354788
NM_001029883.3(PCARE):c.3530G>A (p.Arg1177Gln)
NM_001029883.3(PCARE):c.3541C>G (p.Leu1181Val)
NM_001029883.3(PCARE):c.3581C>G (p.Ala1194Gly)
NM_001029883.3(PCARE):c.3581C>T (p.Ala1194Val)
NM_001029883.3(PCARE):c.3589C>A (p.Arg1197Ser)
NM_001029883.3(PCARE):c.3589C>T (p.Arg1197Cys)
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln)
NM_001029883.3(PCARE):c.3608C>T (p.Pro1203Leu)
NM_001029883.3(PCARE):c.3613C>T (p.Pro1205Ser)
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn)
NM_001029883.3(PCARE):c.3625G>C (p.Asp1209His)
NM_001029883.3(PCARE):c.3657C>A (p.Leu1219=)
NM_001029883.3(PCARE):c.3660C>T (p.Gly1220=)
NM_001029883.3(PCARE):c.3669-5G>A rs886055920
NM_001029883.3(PCARE):c.3672C>A (p.Ser1224Arg)
NM_001029883.3(PCARE):c.3675C>T (p.Ser1225=)
NM_001029883.3(PCARE):c.3675_3676insAGG (p.Glu1226_Glu1227insArg)
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu)
NM_001029883.3(PCARE):c.3706G>C (p.Gly1236Arg)
NM_001029883.3(PCARE):c.3708del (p.Ser1237fs)
NM_001029883.3(PCARE):c.3714C>G (p.Ser1238Arg)
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)
NM_001029883.3(PCARE):c.3735G>C (p.Gln1245His)
NM_001029883.3(PCARE):c.3748C>T (p.Arg1250Cys) rs727503829
NM_001029883.3(PCARE):c.3794C>T (p.Pro1265Leu)
NM_001029883.3(PCARE):c.3795G>A (p.Pro1265=)
NM_001029883.3(PCARE):c.3800C>T (p.Pro1267Leu)
NM_001029883.3(PCARE):c.3803G>A (p.Arg1268Gln)
NM_001029883.3(PCARE):c.3806C>T (p.Thr1269Ile)
NM_001029883.3(PCARE):c.3808G>A (p.Gly1270Ser)
NM_001029883.3(PCARE):c.3833C>A (p.Pro1278Gln)
NM_001029883.3(PCARE):c.3835G>C (p.Glu1279Gln)
NM_001029883.3(PCARE):c.3859G>A (p.Val1287Met)
NM_001029883.3(PCARE):c.385T>G (p.Phe129Val)
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)
NM_001029883.3(PCARE):c.40G>A (p.Val14Ile)
NM_001029883.3(PCARE):c.425C>T (p.Thr142Ile)
NM_001029883.3(PCARE):c.428C>T (p.Ser143Phe)
NM_001029883.3(PCARE):c.458C>T (p.Thr153Met)
NM_001029883.3(PCARE):c.471G>C (p.Gln157His)
NM_001029883.3(PCARE):c.541G>A (p.Val181Ile)
NM_001029883.3(PCARE):c.547G>A (p.Ala183Thr)
NM_001029883.3(PCARE):c.578C>A (p.Ser193Tyr)
NM_001029883.3(PCARE):c.581G>T (p.Ser194Ile)
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp) rs368688827
NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln)
NM_001029883.3(PCARE):c.667C>A (p.Leu223Met)
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929
NM_001029883.3(PCARE):c.683A>T (p.Glu228Val)
NM_001029883.3(PCARE):c.684G>C (p.Glu228Asp)
NM_001029883.3(PCARE):c.701G>A (p.Gly234Glu)
NM_001029883.3(PCARE):c.705G>T (p.Glu235Asp)
NM_001029883.3(PCARE):c.709T>G (p.Ser237Ala)
NM_001029883.3(PCARE):c.724G>A (p.Val242Met)
NM_001029883.3(PCARE):c.778C>T (p.Pro260Ser)
NM_001029883.3(PCARE):c.801_802delinsAA (p.Gln268Lys)
NM_001029883.3(PCARE):c.802C>A (p.Gln268Lys)
NM_001029883.3(PCARE):c.814C>A (p.Gln272Lys)
NM_001029883.3(PCARE):c.837G>C (p.Gln279His)
NM_001029883.3(PCARE):c.868G>A (p.Gly290Ser)
NM_001029883.3(PCARE):c.88C>T (p.Pro30Ser)
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)
NM_001029883.3(PCARE):c.909T>A (p.Thr303=)
NM_001029883.3(PCARE):c.917A>C (p.His306Pro)
NM_001029883.3(PCARE):c.917A>T (p.His306Leu)
NM_001029883.3(PCARE):c.947A>C (p.Asn316Thr)
NM_001029883.3(PCARE):c.955G>A (p.Glu319Lys)
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240
NM_001029883.3(PCARE):c.959G>A (p.Arg320His)
NM_001029883.3(PCARE):c.971C>T (p.Ala324Val)
NM_001029883.3(PCARE):c.994G>A (p.Ala332Thr)

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