ClinVar Miner

List of variants in gene PCNT reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187 0.00024
NM_006031.6(PCNT):c.4447-2A>G rs760664460 0.00010
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_006031.6(PCNT):c.5995-2A>C rs1174601545 0.00002
NM_006031.6(PCNT):c.3202G>T (p.Glu1068Ter) rs1215854055 0.00001
NM_006031.6(PCNT):c.5395A>T (p.Lys1799Ter) rs199566483 0.00001
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062 0.00001
NM_006031.6(PCNT):c.6412dup (p.Val2138fs) rs746584417 0.00001
NM_006031.6(PCNT):c.8065-1G>C rs1450352574 0.00001
NC_000021.8:g.(?_47850401)_(47865240_?)del
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006031.6(PCNT):c.1147G>T (p.Glu383Ter)
NM_006031.6(PCNT):c.1334_1335del (p.Lys445fs)
NM_006031.6(PCNT):c.1345-1G>T
NM_006031.6(PCNT):c.1679+1G>A
NM_006031.6(PCNT):c.1680-1G>C
NM_006031.6(PCNT):c.1958_2154+31del
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.2155-21_2186del rs1555959737
NM_006031.6(PCNT):c.2317G>T (p.Glu773Ter)
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006031.6(PCNT):c.2609+2T>G
NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)
NM_006031.6(PCNT):c.2813_2814del (p.Gln938fs) rs2146922620
NM_006031.6(PCNT):c.3165+1G>A
NM_006031.6(PCNT):c.3166-2A>C rs774553297
NM_006031.6(PCNT):c.3264del (p.Glu1089fs)
NM_006031.6(PCNT):c.3295_3312+14del
NM_006031.6(PCNT):c.3423del (p.Ser1142fs) rs2085816295
NM_006031.6(PCNT):c.3608-2A>G
NM_006031.6(PCNT):c.3669dup (p.Glu1224Ter)
NM_006031.6(PCNT):c.3837_3841-542del
NM_006031.6(PCNT):c.3928C>T (p.Gln1310Ter)
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.4117C>T (p.Gln1373Ter) rs1555974965
NM_006031.6(PCNT):c.4366C>T (p.Gln1456Ter) rs1569249386
NM_006031.6(PCNT):c.4448_4791+1del
NM_006031.6(PCNT):c.4582G>T (p.Glu1528Ter)
NM_006031.6(PCNT):c.4585-2A>G
NM_006031.6(PCNT):c.4585-2A>T
NM_006031.6(PCNT):c.4791+1G>A
NM_006031.6(PCNT):c.4962+1G>C
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5055dup (p.Gln1686fs)
NM_006031.6(PCNT):c.5443C>T (p.Gln1815Ter) rs750764149
NM_006031.6(PCNT):c.546_547del (p.Gly183fs)
NM_006031.6(PCNT):c.5881del (p.Val1961fs) rs2147678255
NM_006031.6(PCNT):c.607del (p.His203fs) rs767416279
NM_006031.6(PCNT):c.6145_6150+54del
NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)
NM_006031.6(PCNT):c.640-1G>A
NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.6922-1G>A
NM_006031.6(PCNT):c.7024+1G>A
NM_006031.6(PCNT):c.7024+1G>C
NM_006031.6(PCNT):c.7321-1G>A
NM_006031.6(PCNT):c.7494+1G>A rs760423461
NM_006031.6(PCNT):c.7559_7561delinsGGCC (p.Glu2520fs) rs1601176084
NM_006031.6(PCNT):c.7624_7631del (p.Leu2542fs)
NM_006031.6(PCNT):c.7690+1G>T
NM_006031.6(PCNT):c.7690+2_7690+3del
NM_006031.6(PCNT):c.7691-1G>A
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) rs2147963975
NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)
NM_006031.6(PCNT):c.8064+1G>A
NM_006031.6(PCNT):c.8544del (p.Ala2849fs) rs1266152010
NM_006031.6(PCNT):c.8996+2T>C
NM_006031.6(PCNT):c.9099+1G>A
NM_006031.6(PCNT):c.9274-2A>G
NM_006031.6(PCNT):c.9393+1G>A
NM_006031.6(PCNT):c.9417C>G (p.Tyr3139Ter) rs2148093265
NM_006031.6(PCNT):c.9624-2A>G
NM_006031.6(PCNT):c.9700+2T>C
NM_006031.6(PCNT):c.9701-1G>A
NM_006031.6(PCNT):c.9701-2A>G
NM_006031.6(PCNT):c.9701-2A>T
NM_006031.6(PCNT):c.9715C>T (p.Gln3239Ter) rs1474939581
NM_006031.6:c.(6921+1_6922-1)_(7024+1_7025-1)del

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