ClinVar Miner

List of variants in gene PCNT studied for Microcephalic Osteodysplastic Primordial Dwarfism

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Gene type:
ClinVar version:
Total variants: 199
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HGVS dbSNP
NM_006031.5(PCNT):c.-100delG rs397802954
NM_006031.5(PCNT):c.-100dupG rs397802954
NM_006031.5(PCNT):c.-75G>A rs747401688
NM_006031.6(PCNT):c.*101T>G rs138450666
NM_006031.6(PCNT):c.*22del rs777390900
NM_006031.6(PCNT):c.*307A>G rs879391669
NM_006031.6(PCNT):c.*343_*346del rs145379994
NM_006031.6(PCNT):c.*391_*396del rs377311069
NM_006031.6(PCNT):c.*421A>G rs886057198
NM_006031.6(PCNT):c.-16G>T rs138595914
NM_006031.6(PCNT):c.-25G>C rs202239640
NM_006031.6(PCNT):c.-35T>A rs886057177
NM_006031.6(PCNT):c.1040A>G (p.Lys347Arg) rs80166001
NM_006031.6(PCNT):c.1107T>C (p.His369=) rs113731555
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549
NM_006031.6(PCNT):c.1185T>C (p.Phe395=) rs764314231
NM_006031.6(PCNT):c.1236T>C (p.His412=) rs769637090
NM_006031.6(PCNT):c.1370A>G (p.Glu457Gly) rs147868583
NM_006031.6(PCNT):c.1479G>A (p.Ala493=) rs199864153
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060
NM_006031.6(PCNT):c.1784C>T (p.Ala595Val) rs143028464
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054
NM_006031.6(PCNT):c.2075T>C (p.Ile692Thr) rs886057179
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223
NM_006031.6(PCNT):c.2247A>C (p.Glu749Asp) rs202246527
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) rs61407822
NM_006031.6(PCNT):c.2444C>T (p.Thr815Met) rs201895762
NM_006031.6(PCNT):c.244G>A (p.Ala82Thr) rs143870030
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710
NM_006031.6(PCNT):c.2610-5C>T rs2839226
NM_006031.6(PCNT):c.2610-8T>C rs377164652
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227
NM_006031.6(PCNT):c.2647A>G (p.Ser883Gly) rs771897801
NM_006031.6(PCNT):c.2677G>A (p.Ala893Thr) rs776133593
NM_006031.6(PCNT):c.2724C>G (p.His908Gln) rs746750267
NM_006031.6(PCNT):c.2865C>T (p.Ala955=) rs540548340
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289
NM_006031.6(PCNT):c.3206A>G (p.Lys1069Arg) rs886057180
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.6(PCNT):c.3395G>A (p.Arg1132Gln) rs200148867
NM_006031.6(PCNT):c.3464G>A (p.Arg1155Lys) rs886057181
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802
NM_006031.6(PCNT):c.3581C>T (p.Ala1194Val) rs138254119
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806
NM_006031.6(PCNT):c.3682A>G (p.Met1228Val) rs886057182
NM_006031.6(PCNT):c.3714G>C (p.Met1238Ile) rs886057183
NM_006031.6(PCNT):c.3716G>A (p.Arg1239His) rs201315836
NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp) rs117987006
NM_006031.6(PCNT):c.3762G>A (p.Gln1254=) rs886057184
NM_006031.6(PCNT):c.379C>G (p.Pro127Ala) rs139106698
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438
NM_006031.6(PCNT):c.4223G>A (p.Arg1408Gln) rs199661615
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569
NM_006031.6(PCNT):c.4378G>A (p.Val1460Ile) rs766688176
NM_006031.6(PCNT):c.4387C>A (p.Leu1463Met) rs193261408
NM_006031.6(PCNT):c.4432C>T (p.Arg1478Trp) rs549834885
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.4555G>A (p.Asp1519Asn) rs762126145
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741
NM_006031.6(PCNT):c.4584+9G>T rs202096874
NM_006031.6(PCNT):c.4605G>T (p.Lys1535Asn) rs775413533
NM_006031.6(PCNT):c.467A>G (p.His156Arg) rs61735825
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542
NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val) rs546562229
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) rs6518291
NM_006031.6(PCNT):c.4953C>T (p.Arg1651=) rs760142269
NM_006031.6(PCNT):c.4962+10G>A rs114474454
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824
NM_006031.6(PCNT):c.5027T>C (p.Ile1676Thr) rs140290722
NM_006031.6(PCNT):c.513G>C (p.Met171Ile) rs142422937
NM_006031.6(PCNT):c.5199G>A (p.Lys1733=) rs61735808
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822
NM_006031.6(PCNT):c.5257C>T (p.Leu1753=) rs886057185
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) rs58559714
NM_006031.6(PCNT):c.54+6C>T rs80017051
NM_006031.6(PCNT):c.5402C>A (p.Ala1801Asp) rs759289691
NM_006031.6(PCNT):c.5477G>C (p.Gly1826Ala) rs199847432
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) rs61735543
NM_006031.6(PCNT):c.5543A>G (p.Glu1848Gly) rs201943167
NM_006031.6(PCNT):c.5554A>G (p.Met1852Val) rs142080697
NM_006031.6(PCNT):c.5582C>T (p.Ala1861Val) rs373238616
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811
NM_006031.6(PCNT):c.5648G>A (p.Arg1883Gln) rs770575971
NM_006031.6(PCNT):c.5707C>T (p.Arg1903Cys) rs548190846
NM_006031.6(PCNT):c.5726C>T (p.Pro1909Leu) rs781468861
NM_006031.6(PCNT):c.5741C>T (p.Ala1914Val) rs748285536
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810
NM_006031.6(PCNT):c.5792G>A (p.Arg1931His) rs776640595
NM_006031.6(PCNT):c.5792G>T (p.Arg1931Leu) rs776640595
NM_006031.6(PCNT):c.5826G>A (p.Arg1942=) rs536281306
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533
NM_006031.6(PCNT):c.5960A>T (p.Asp1987Val) rs374300652
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val) rs145119952
NM_006031.6(PCNT):c.6150+10G>C rs886057186
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245
NM_006031.6(PCNT):c.6295C>T (p.Pro2099Ser) rs371054707
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.6395A>G (p.Asn2132Ser) rs886057187
NM_006031.6(PCNT):c.6416C>T (p.Thr2139Ile) rs886057188
NM_006031.6(PCNT):c.6468A>G (p.Pro2156=) rs886057189
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) rs1044998
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913
NM_006031.6(PCNT):c.6585C>T (p.Ser2195=) rs372022297
NM_006031.6(PCNT):c.6590T>C (p.Leu2197Pro) rs369420036
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) rs57108405
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.6648C>T (p.Val2216=) rs527590016
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812
NM_006031.6(PCNT):c.6754A>G (p.Ser2252Gly) rs886057190
NM_006031.6(PCNT):c.6761G>A (p.Cys2254Tyr) rs141635334
NM_006031.6(PCNT):c.6790G>A (p.Ala2264Thr) rs771286324
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970
NM_006031.6(PCNT):c.6914C>T (p.Thr2305Met) rs770226991
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) rs2839246
NM_006031.6(PCNT):c.6983C>T (p.Pro2328Leu) rs747212974
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602
NM_006031.6(PCNT):c.7061G>T (p.Gly2354Val) rs144775948
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) rs7277175
NM_006031.6(PCNT):c.7118G>A (p.Gly2373Glu) rs147670568
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814
NM_006031.6(PCNT):c.7180-8C>T rs143511166
NM_006031.6(PCNT):c.721-5C>T rs144683591
NM_006031.6(PCNT):c.721-7G>A rs2839217
NM_006031.6(PCNT):c.721-7G>T rs2839217
NM_006031.6(PCNT):c.7332C>T (p.Thr2444=) rs150882711
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) rs61735818
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819
NM_006031.6(PCNT):c.7681C>G (p.Arg2561Gly) rs751345838
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820
NM_006031.6(PCNT):c.7836C>T (p.Asp2612=) rs757858684
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693
NM_006031.6(PCNT):c.788A>G (p.Glu263Gly) rs886057178
NM_006031.6(PCNT):c.7913+4C>T rs376736200
NM_006031.6(PCNT):c.7913+9G>C rs1023160
NM_006031.6(PCNT):c.7914-4G>A rs76287849
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426
NM_006031.6(PCNT):c.8028C>T (p.His2676=) rs886057191
NM_006031.6(PCNT):c.8116G>A (p.Val2706Met) rs780988556
NM_006031.6(PCNT):c.8172C>T (p.Ile2724=) rs146717642
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376
NM_006031.6(PCNT):c.8399G>A (p.Arg2800Gln) rs146792192
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595
NM_006031.6(PCNT):c.8942G>A (p.Arg2981Gln) rs747159043
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826
NM_006031.6(PCNT):c.8996+5G>A rs886057193
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys) rs186701249
NM_006031.6(PCNT):c.9099+14G>A rs370266308
NM_006031.6(PCNT):c.9099+8G>T rs369178196
NM_006031.6(PCNT):c.9128A>G (p.Gln3043Arg) rs747647379
NM_006031.6(PCNT):c.9211A>G (p.Arg3071Gly) rs886057194
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842
NM_006031.6(PCNT):c.9274-3C>T rs200348425
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.9291T>C (p.Ala3097=) rs150554265
NM_006031.6(PCNT):c.9394-4T>C rs2839260
NM_006031.6(PCNT):c.947A>T (p.Glu316Val) rs201194745
NM_006031.6(PCNT):c.9532G>C (p.Gly3178Arg) rs372024492
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380
NM_006031.6(PCNT):c.9840-4G>A rs199857861
NM_006031.6(PCNT):c.9949T>C (p.Leu3317=) rs111389121

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