ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227
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.3487C>T (p.Arg1163Cys) rs7279204
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438
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.467A>G (p.His156Arg) rs61735825
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413
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.5771C>T (p.Ala1924Val) rs184420466
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.720+17T>C rs9982233
NM_006031.6(PCNT):c.721-7G>A rs2839217
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.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.8418G>A (p.Ala2806=) rs9983522
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826
NM_006031.6(PCNT):c.9274-3C>T rs200348425

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