ClinVar Miner

List of variants in gene PCNT studied for not provided

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Gene type:
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Total variants: 134
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HGVS dbSNP
GRCh37/hg19 21q22.3(chr21:47801930-47810736)x0
GRCh37/hg19 21q22.3(chr21:47801930-47811272)x0
GRCh37/hg19 21q22.3(chr21:47818298-47851753)x3
GRCh37/hg19 21q22.3(chr21:47821583-47841941)x3
GRCh37/hg19 21q22.3(chr21:47821588-47860054)x3
GRCh37/hg19 21q22.3(chr21:47821619-47848503)x3
GRCh37/hg19 21q22.3(chr21:47822397-47848503)x3
GRCh37/hg19 21q22.3(chr21:47831217-47832881)x3
GRCh37/hg19 21q22.3(chr21:47848445-47856021)x1
GRCh37/hg19 21q22.3(chr21:47848445-47858248)x1
NM_006031.6(PCNT):c.-15C>G
NM_006031.6(PCNT):c.10007A>G (p.Gln3336Arg) rs794727685
NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys) rs777707751
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458
NM_006031.6(PCNT):c.1345-287C>T
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) rs1555953206
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) rs767430243
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser) rs371296160
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter) rs777830265
NM_006031.6(PCNT):c.1937-161G>A
NM_006031.6(PCNT):c.1937-183G>A
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) rs756261885
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.1971C>G (p.Asp657Glu) rs150892737
NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp) rs768518510
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.2154+116A>G
NM_006031.6(PCNT):c.2167C>G (p.Leu723Val) rs483352730
NM_006031.6(PCNT):c.2260G>T (p.Val754Phe) rs375312732
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006031.6(PCNT):c.247G>C (p.Gly83Arg) rs886042361
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.2609+211T>C
NM_006031.6(PCNT):c.2610-50T>A rs9637173
NM_006031.6(PCNT):c.2610-50T>G
NM_006031.6(PCNT):c.2610-8T>C rs377164652
NM_006031.6(PCNT):c.267+163G>A
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys)
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3166-2A>C rs774553297
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457
NM_006031.6(PCNT):c.3464+4A>T rs1555971930
NM_006031.6(PCNT):c.3532A>G (p.Thr1178Ala) rs1389951479
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168
NM_006031.6(PCNT):c.3749G>A (p.Arg1250Gln)
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter) rs1555973872
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839
NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) rs145055342
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter) rs1555974965
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611
NM_006031.6(PCNT):c.4217-226G>A
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn) rs886042852
NM_006031.6(PCNT):c.4584+129T>C
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_583dup (p.His156_Gln194dup) rs1555945598
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup) rs886042352
NM_006031.6(PCNT):c.4863T>G (p.Asp1621Glu)
NM_006031.6(PCNT):c.4946T>C (p.Leu1649Pro) rs149214680
NM_006031.6(PCNT):c.4962+91G>A
NM_006031.6(PCNT):c.5115+147C>T
NM_006031.6(PCNT):c.5116-260T>C
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) rs1555984919
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter) rs199566483
NM_006031.6(PCNT):c.5411G>A (p.Arg1804Gln)
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) rs1352792544
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466
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.6093G>A (p.Gln2031=) rs138543824
NM_006031.6(PCNT):c.6150+147C>T
NM_006031.6(PCNT):c.6150+150A>C
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726
NM_006031.6(PCNT):c.6364_6365AT[1] (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA rs59957960
NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419
NM_006031.6(PCNT):c.7180-7G>A rs201549624
NM_006031.6(PCNT):c.720+110A>C
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
NM_006031.6(PCNT):c.7494+143T>C
NM_006031.6(PCNT):c.7574G>A (p.Arg2525His) rs940897400
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter) rs749426946
NM_006031.6(PCNT):c.7966G>C (p.Glu2656Gln)
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.874C>G (p.Leu292Val) rs762961416
NM_006031.6(PCNT):c.8752-308G>A
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) rs372356069
NM_006031.6(PCNT):c.8989G>A (p.Val2997Met) rs781469305
NM_006031.6(PCNT):c.8996+45C>A rs2236616
NM_006031.6(PCNT):c.9099+8G>T rs369178196
NM_006031.6(PCNT):c.9146T>C (p.Leu3049Pro) rs794727667
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) rs754586558
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met) rs371058544
NM_006031.6(PCNT):c.9273+22T>C rs2051190
NM_006031.6(PCNT):c.9274-58dup
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735
NM_006031.6(PCNT):c.9393+102C>T
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463
NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) rs149844283
NM_006031.6(PCNT):c.9624-190C>T
NM_006031.6(PCNT):c.9624-222T>C
NM_006031.6(PCNT):c.9700+138A>G
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604
NM_006031.6(PCNT):c.9840-4G>A rs199857861
NM_006031.6(PCNT):c.9967+79C>T
NM_006031.6(PCNT):c.9967+89G>C

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