ClinVar Miner

List of variants in gene PCNT reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
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.1593G>A (p.Glu531=) rs767430243
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538
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.247G>C (p.Gly83Arg) rs886042361
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.2610-8T>C rs377164652
NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys) rs147358856
NM_006031.6(PCNT):c.2947C>T (p.Arg983Cys)
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.3885T>C (p.Phe1295=) rs755298136
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.4140G>A (p.Ala1380=) rs372175239
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611
NM_006031.6(PCNT):c.445A>G (p.Ser149Gly) rs111737555
NM_006031.6(PCNT):c.4576G>A (p.Asp1526Asn) rs886042852
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012
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.5563C>A (p.Arg1855=) rs151138182
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.6625G>A (p.Ala2209Thr) rs769183047
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.7136C>T (p.Pro2379Leu) rs151230453
NM_006031.6(PCNT):c.7180-7G>A rs201549624
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
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.7966G>C (p.Glu2656Gln)
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039
NM_006031.6(PCNT):c.874C>G (p.Leu292Val) rs762961416
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.9146T>C (p.Leu3049Pro) rs794727667
NM_006031.6(PCNT):c.9217G>A (p.Val3073Met) rs371058544
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605
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.9707G>A (p.Arg3236Gln) rs113591604
NM_006031.6(PCNT):c.9840-4G>A rs199857861

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