ClinVar Miner

List of variants in gene PCNT studied for Microcephalic osteodysplastic primordial dwarfism type 2

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Total variants: 125
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HGVS dbSNP
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344
NM_006031.6(PCNT):c.1528dup (p.Thr510fs)
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030
NM_006031.6(PCNT):c.2470C>T (p.Leu824=) rs61735803
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546
NM_006031.6(PCNT):c.2610-5C>T rs2839226
NM_006031.6(PCNT):c.2710C>T (p.Leu904Phe) rs61735804
NM_006031.6(PCNT):c.2714A>G (p.Gln905Arg) rs112231246
NM_006031.6(PCNT):c.2742A>G (p.Ser914=) rs587784301
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289
NM_006031.6(PCNT):c.321G>T (p.Lys107Asn) rs138834119
NM_006031.6(PCNT):c.3220C>T (p.Arg1074Trp) rs200174202
NM_006031.6(PCNT):c.3233C>A (p.Ala1078Glu) rs587784303
NM_006031.6(PCNT):c.3282G>T (p.Gln1094His) rs78484478
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.6(PCNT):c.336T>C (p.His112=) rs59157477
NM_006031.6(PCNT):c.339T>A (p.Pro113=) rs59662841
NM_006031.6(PCNT):c.3418_3420CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.3443T>C (p.Val1148Ala) rs762148129
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.6(PCNT):c.362_365CAGT[1] (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876
NM_006031.6(PCNT):c.3992A>G (p.His1331Arg) rs34012939
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4078C>T (p.Arg1360Cys) rs202221024
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342
NM_006031.6(PCNT):c.4139C>T (p.Ala1380Val) rs201139850
NM_006031.6(PCNT):c.4175G>A (p.Arg1392Gln) rs587784304
NM_006031.6(PCNT):c.427C>T (p.Arg143Cys) rs201176638
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006031.6(PCNT):c.4431G>A (p.Gln1477=) rs61735807
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.4769A>G (p.Asn1590Ser) rs587784307
NM_006031.6(PCNT):c.4844C>T (p.Thr1615Met) rs139581644
NM_006031.6(PCNT):c.4934_4935AG[2] (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
NM_006031.6(PCNT):c.5347C>T (p.Pro1783Ser) rs61735809
NM_006031.6(PCNT):c.5431C>T (p.Arg1811Cys) rs587784309
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.55-5C>T rs587784310
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5677G>T (p.Ala1893Ser) rs587784311
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006031.6(PCNT):c.5774A>C (p.Gln1925Pro) rs587784313
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162
NM_006031.6(PCNT):c.6195T>G (p.Asp2065Glu) rs148389745
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786
NM_006031.6(PCNT):c.6572C>A (p.Ser2191Tyr) rs587784315
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.6633C>T (p.Pro2211=) rs587784316
NM_006031.6(PCNT):c.6722G>A (p.Ser2241Asn) rs142402562
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425
NM_006031.6(PCNT):c.6922-4A>T rs587784317
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.7011T>C (p.Asp2337=) rs138506849
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.6(PCNT):c.7198C>T (p.Arg2400Cys) rs751297741
NM_006031.6(PCNT):c.720+17T>C rs9982233
NM_006031.6(PCNT):c.721-7G>A rs2839217
NM_006031.6(PCNT):c.7297T>C (p.Ser2433Pro) rs113536916
NM_006031.6(PCNT):c.7304A>G (p.His2435Arg) rs373432697
NM_006031.6(PCNT):c.7309G>C (p.Gly2437Arg) rs148384323
NM_006031.6(PCNT):c.7321-10C>T rs587784318
NM_006031.6(PCNT):c.7465G>A (p.Glu2489Lys) rs148485670
NM_006031.6(PCNT):c.7648G>A (p.Glu2550Lys) rs71326327
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948
NM_006031.6(PCNT):c.7914-16C>T rs2839257
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.844dup (p.Glu282fs)
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8672C>T (p.Ala2891Val) rs144963695
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064
NM_006031.6(PCNT):c.8814_8815GA[2] (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320
NM_006031.6(PCNT):c.8873G>A (p.Arg2958His) rs574728262
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321
NM_006031.6(PCNT):c.8947C>G (p.Leu2983Val) rs372356069
NM_006031.6(PCNT):c.8959C>T (p.Arg2987Trp) rs587784322
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006031.6(PCNT):c.931G>A (p.Ala311Thr) rs140196457
NM_006031.6(PCNT):c.9584G>A (p.Arg3195Lys) rs78524660
NM_006031.6(PCNT):c.9698C>G (p.Pro3233Arg) rs373681566
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006031.6(PCNT):c.9719C>T (p.Pro3240Leu) rs138860570
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380
NM_006031.6(PCNT):c.9740G>A (p.Arg3247Lys) rs587784323
NM_006031.6(PCNT):c.9820T>G (p.Ser3274Ala) rs144044246
NM_006031.6(PCNT):c.9968-3C>T rs182378192
PCNT, 3-BP DEL, 9460AAG
PCNT, 486-BP DEL, NT84

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