ClinVar Miner

List of variants in gene PCARE reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.3(PCARE):c.1828C>T (p.Gln610Ter) rs886044003
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870
NM_001029883.3(PCARE):c.184C>G (p.Pro62Ala) rs76346220
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.3(PCARE):c.2083G>A (p.Glu695Lys) rs769814461
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782
NM_001029883.3(PCARE):c.2227_2228del (p.Leu744fs) rs886044002
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.2348T>C (p.Ile783Thr) rs141559332
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433
NM_001029883.3(PCARE):c.2506G>T (p.Glu836Ter) rs886044135
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363
NM_001029883.3(PCARE):c.2796A>C (p.Gln932His) rs794726891
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618
NM_001029883.3(PCARE):c.2920_2921insC (p.Glu974fs) rs1553354488
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=) rs774215025
NM_001029883.3(PCARE):c.2954A>G (p.Glu985Gly) rs398123539
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3032_3046dup (p.Tyr1016_Arg1017insCysLeuProSerSer) rs1293436955
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr) rs202196567
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg) rs796065322
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963
NM_001029883.3(PCARE):c.3089C>T (p.Pro1030Leu) rs773374374
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) rs140790266
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) rs794726892
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) rs72861054
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=) rs183536545
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694
NM_001029883.3(PCARE):c.3668+14T>C rs72861052
NM_001029883.3(PCARE):c.3669-2AGC[4]
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001029883.3(PCARE):c.3741del (p.Thr1248fs) rs1558485126
NM_001029883.3(PCARE):c.3748C>T (p.Arg1250Cys) rs727503829
NM_001029883.3(PCARE):c.3778G>A (p.Gly1260Ser) rs886042981
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791
NM_001029883.3(PCARE):c.3813C>T (p.His1271=) rs369662857
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys) rs374283240
NM_001029883.3(PCARE):c.99G>A (p.Gln33=) rs146455733

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