ClinVar Miner

List of variants in gene PCNT reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_006031.6(PCNT):c.1393G>A (p.Glu465Lys) rs1555953206
NM_006031.6(PCNT):c.1790T>C (p.Leu597Ser) rs371296160
NM_006031.6(PCNT):c.1963G>T (p.Val655Leu) rs756261885
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.2260G>T (p.Val754Phe) rs375312732
NM_006031.6(PCNT):c.3710A>G (p.His1237Arg) rs761299168
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611
NM_006031.6(PCNT):c.445A>T (p.Ser149Cys) rs111737555
NM_006031.6(PCNT):c.467_583dup (p.His156_Gln194dup) rs1555945598
NM_006031.6(PCNT):c.5177A>G (p.Glu1726Gly) rs1555984919
NM_006031.6(PCNT):c.5636C>G (p.Ala1879Gly) rs1352792544
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047
NM_006031.6(PCNT):c.6922-5_6922-4insCCTGA rs59957960
NM_006031.6(PCNT):c.8398C>T (p.Arg2800Trp) rs142608069
NM_006031.6(PCNT):c.9163C>A (p.Leu3055Ile) rs754586558
NM_006031.6(PCNT):c.9278C>G (p.Ser3093Trp) rs374857206
NM_006031.6(PCNT):c.934C>T (p.Arg312Trp) rs572076735

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