ClinVar Miner

List of variants in gene PCNT reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.9706C>T (p.Arg3236Ter) rs757793925 0.00004
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344 0.00002
NM_006031.6(PCNT):c.2347dup (p.Gln783fs) rs766116729 0.00002
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876 0.00002
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162 0.00002
NM_006031.6(PCNT):c.2980C>T (p.Arg994Ter) rs768317443 0.00001
NM_006031.6(PCNT):c.307C>T (p.Gln103Ter) rs1290073918 0.00001
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs) rs869312929 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.6162_6163del (p.Lys2054fs) rs778391726 0.00001
NM_006031.6(PCNT):c.6412dup (p.Val2138fs) rs746584417 0.00001
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064 0.00001
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320 0.00001
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321 0.00001
NC_000021.8:g.(?_47744143)_(47744216_?)del
NC_000021.8:g.(?_47744143)_(47754702_?)del
NC_000021.8:g.(?_47744143)_(47805918_?)del
NC_000021.8:g.(?_47744143)_(47865240_?)del
NC_000021.8:g.(?_47838098)_(47838240_?)del
NC_000021.8:g.(?_47841864)_(47865240_?)del
NC_000021.8:g.(?_47848289)_(47861017_?)del
NC_000021.8:g.(?_47859976)_(47862506_?)del
NC_000021.9:g.46363480del
NC_000021.9:g.46428396del
NM_006031.6(PCNT):c.1114G>T (p.Glu372Ter)
NM_006031.6(PCNT):c.1168G>T (p.Glu390Ter)
NM_006031.6(PCNT):c.1318G>T (p.Glu440Ter)
NM_006031.6(PCNT):c.1321_1322del (p.Ser441fs)
NM_006031.6(PCNT):c.1388C>G (p.Ser463Ter)
NM_006031.6(PCNT):c.1390C>T (p.Gln464Ter)
NM_006031.6(PCNT):c.1417C>T (p.Gln473Ter)
NM_006031.6(PCNT):c.1454del (p.Ser485fs)
NM_006031.6(PCNT):c.1467del (p.Glu489fs)
NM_006031.6(PCNT):c.1519C>T (p.Arg507Ter) rs138036524
NM_006031.6(PCNT):c.1550dup (p.Gln518fs) rs2146654353
NM_006031.6(PCNT):c.1637del (p.Gln546fs) rs2146655550
NM_006031.6(PCNT):c.1670_1671del (p.Val557fs)
NM_006031.6(PCNT):c.174_180dup (p.Ser61fs)
NM_006031.6(PCNT):c.1753C>T (p.Arg585Ter)
NM_006031.6(PCNT):c.1837dup (p.Cys613fs)
NM_006031.6(PCNT):c.1843C>T (p.Gln615Ter) rs777830265
NM_006031.6(PCNT):c.1937-1G>C
NM_006031.6(PCNT):c.2036_2037dup (p.Gln680fs)
NM_006031.6(PCNT):c.2096_2102del (p.Asn699fs)
NM_006031.6(PCNT):c.2109T>A (p.Tyr703Ter)
NM_006031.6(PCNT):c.2133_2140dup (p.Asp714delinsValTer)
NM_006031.6(PCNT):c.2186del (p.Lys729fs)
NM_006031.6(PCNT):c.2188G>T (p.Glu730Ter)
NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) rs151020551
NM_006031.6(PCNT):c.237del (p.Asp80fs)
NM_006031.6(PCNT):c.2410dup (p.Ala804fs)
NM_006031.6(PCNT):c.2456dup (p.Arg820fs)
NM_006031.6(PCNT):c.2473G>T (p.Glu825Ter)
NM_006031.6(PCNT):c.2555_2556insCG (p.Ala853fs)
NM_006031.6(PCNT):c.25_34del (p.Arg9fs)
NM_006031.6(PCNT):c.2627_2628del (p.Lys876fs)
NM_006031.6(PCNT):c.2653G>T (p.Glu885Ter)
NM_006031.6(PCNT):c.2818dup (p.Ala940fs) rs2146922648
NM_006031.6(PCNT):c.2842G>T (p.Glu948Ter)
NM_006031.6(PCNT):c.2906_2913del (p.Asp969fs)
NM_006031.6(PCNT):c.2950G>T (p.Glu984Ter)
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.2990_2991dup (p.Glu998fs)
NM_006031.6(PCNT):c.3010A>T (p.Lys1004Ter)
NM_006031.6(PCNT):c.3019_3020del (p.Leu1007fs) rs764602074
NM_006031.6(PCNT):c.3028del (p.Thr1010fs)
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3113_3143del (p.Val1038fs)
NM_006031.6(PCNT):c.3225dup (p.Gln1076fs)
NM_006031.6(PCNT):c.3263_3266del (p.Lys1088fs)
NM_006031.6(PCNT):c.3271_3272del (p.Leu1091fs)
NM_006031.6(PCNT):c.3301C>T (p.Gln1101Ter)
NM_006031.6(PCNT):c.3424_3425del (p.Ser1142fs)
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3500del (p.Gly1167fs)
NM_006031.6(PCNT):c.3507del (p.Phe1169fs)
NM_006031.6(PCNT):c.362_363del (p.Thr121fs)
NM_006031.6(PCNT):c.3757G>T (p.Glu1253Ter) rs1555973872
NM_006031.6(PCNT):c.3830_3831dup (p.Ser1278fs)
NM_006031.6(PCNT):c.3919del (p.Arg1307fs)
NM_006031.6(PCNT):c.395_402del (p.Met132fs)
NM_006031.6(PCNT):c.398del (p.Phe133fs) rs1131691484
NM_006031.6(PCNT):c.4004-2A>G rs2147305680
NM_006031.6(PCNT):c.4016del (p.Gly1339fs)
NM_006031.6(PCNT):c.4277_4281del (p.Glu1426fs)
NM_006031.6(PCNT):c.4336C>T (p.Gln1446Ter)
NM_006031.6(PCNT):c.4429C>T (p.Gln1477Ter)
NM_006031.6(PCNT):c.4471G>T (p.Glu1491Ter)
NM_006031.6(PCNT):c.4478dup (p.Glu1494fs)
NM_006031.6(PCNT):c.4486C>T (p.Gln1496Ter)
NM_006031.6(PCNT):c.4544_4551del (p.Trp1515fs)
NM_006031.6(PCNT):c.4597C>T (p.Gln1533Ter)
NM_006031.6(PCNT):c.4764_4765del (p.Asn1590fs)
NM_006031.6(PCNT):c.4945dup (p.Leu1649fs)
NM_006031.6(PCNT):c.4976_4980del (p.Lys1659fs)
NM_006031.6(PCNT):c.5023G>T (p.Glu1675Ter)
NM_006031.6(PCNT):c.5056C>T (p.Gln1686Ter)
NM_006031.6(PCNT):c.5188C>T (p.Arg1730Ter)
NM_006031.6(PCNT):c.5230G>T (p.Glu1744Ter)
NM_006031.6(PCNT):c.5248C>T (p.Gln1750Ter)
NM_006031.6(PCNT):c.5473C>T (p.Gln1825Ter)
NM_006031.6(PCNT):c.5480del (p.Ala1827fs)
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5562_5563dup (p.Arg1855fs)
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.5752G>T (p.Glu1918Ter)
NM_006031.6(PCNT):c.5791_5797del (p.Arg1931fs)
NM_006031.6(PCNT):c.5812C>T (p.Gln1938Ter)
NM_006031.6(PCNT):c.5817del (p.Phe1940fs)
NM_006031.6(PCNT):c.6038dup (p.Cys2014fs)
NM_006031.6(PCNT):c.6039_6040del (p.Cys2014fs)
NM_006031.6(PCNT):c.607del (p.His203fs) rs767416279
NM_006031.6(PCNT):c.619C>T (p.Gln207Ter)
NM_006031.6(PCNT):c.6205C>T (p.Gln2069Ter)
NM_006031.6(PCNT):c.6214C>T (p.Gln2072Ter)
NM_006031.6(PCNT):c.6366_6367del (p.Ser2123fs) rs1064793985
NM_006031.6(PCNT):c.6445dup (p.Ala2149fs)
NM_006031.6(PCNT):c.6538del (p.Gln2180fs)
NM_006031.6(PCNT):c.6556C>T (p.Gln2186Ter)
NM_006031.6(PCNT):c.6720del (p.Ser2241fs)
NM_006031.6(PCNT):c.6872G>A (p.Trp2291Ter)
NM_006031.6(PCNT):c.6899del (p.His2300fs)
NM_006031.6(PCNT):c.6943dup (p.Ile2315fs)
NM_006031.6(PCNT):c.6974T>G (p.Leu2325Ter)
NM_006031.6(PCNT):c.7026dup (p.Asp2343Ter) rs2147850264
NM_006031.6(PCNT):c.7087_7088insGGGCCCATACCCCGAAAATGTTGGTTATACCCTTCCCGTA (p.Ala2363fs)
NM_006031.6(PCNT):c.7175_7176dup (p.Lys2393Ter)
NM_006031.6(PCNT):c.7272del (p.Lys2425fs)
NM_006031.6(PCNT):c.7299_7300del (p.Leu2434fs)
NM_006031.6(PCNT):c.7310del (p.Gly2437fs)
NM_006031.6(PCNT):c.7347G>A (p.Trp2449Ter)
NM_006031.6(PCNT):c.7366_7369dup (p.Val2457fs)
NM_006031.6(PCNT):c.7407_7408insTC (p.Val2470fs)
NM_006031.6(PCNT):c.7429_7430del (p.Ser2477fs)
NM_006031.6(PCNT):c.7448dup (p.His2484fs)
NM_006031.6(PCNT):c.7492C>T (p.Gln2498Ter)
NM_006031.6(PCNT):c.7564C>T (p.Gln2522Ter)
NM_006031.6(PCNT):c.7579C>T (p.Gln2527Ter)
NM_006031.6(PCNT):c.7663C>T (p.Gln2555Ter)
NM_006031.6(PCNT):c.7675C>T (p.Gln2559Ter)
NM_006031.6(PCNT):c.7688del (p.Gln2563fs)
NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter) rs749426946
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer) rs2147963975
NM_006031.6(PCNT):c.7891C>T (p.Gln2631Ter)
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter) rs758298374
NM_006031.6(PCNT):c.8146_8149dup (p.Asn2717fs)
NM_006031.6(PCNT):c.8454_8455del (p.Gln2819fs)
NM_006031.6(PCNT):c.8461C>T (p.Gln2821Ter)
NM_006031.6(PCNT):c.8479C>T (p.Gln2827Ter)
NM_006031.6(PCNT):c.8484dup (p.His2829fs)
NM_006031.6(PCNT):c.8503A>T (p.Arg2835Ter)
NM_006031.6(PCNT):c.8542del (p.Glu2848fs)
NM_006031.6(PCNT):c.8544del (p.Ala2849fs) rs1266152010
NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter)
NM_006031.6(PCNT):c.8591_8594del (p.Glu2864fs)
NM_006031.6(PCNT):c.8593_8594del (p.Arg2865fs)
NM_006031.6(PCNT):c.8633C>G (p.Ser2878Ter)
NM_006031.6(PCNT):c.8638_8639del (p.Pro2880fs)
NM_006031.6(PCNT):c.8645T>A (p.Leu2882Ter)
NM_006031.6(PCNT):c.8653C>T (p.Gln2885Ter)
NM_006031.6(PCNT):c.8680_8689del (p.Ser2894fs)
NM_006031.6(PCNT):c.8720G>A (p.Trp2907Ter)
NM_006031.6(PCNT):c.8725A>T (p.Lys2909Ter)
NM_006031.6(PCNT):c.8752del (p.Arg2918fs)
NM_006031.6(PCNT):c.8761G>T (p.Glu2921Ter)
NM_006031.6(PCNT):c.8797_8798insT (p.Gln2933fs)
NM_006031.6(PCNT):c.8846del (p.Gly2949fs)
NM_006031.6(PCNT):c.8911C>T (p.Gln2971Ter)
NM_006031.6(PCNT):c.8959del (p.Arg2987fs)
NM_006031.6(PCNT):c.8983C>T (p.Gln2995Ter)
NM_006031.6(PCNT):c.9078del (p.Ser3027fs)
NM_006031.6(PCNT):c.9121C>T (p.Gln3041Ter)
NM_006031.6(PCNT):c.9273+1G>A
NM_006031.6(PCNT):c.9330del (p.Arg3110fs)
NM_006031.6(PCNT):c.934del (p.Arg312fs)
NM_006031.6(PCNT):c.939_940del (p.Lys314fs)
NM_006031.6(PCNT):c.9447_9451del (p.Ile3150fs)
NM_006031.6(PCNT):c.9510_9511del (p.Ser3172fs)
NM_006031.6(PCNT):c.9535dup (p.Val3179fs) rs747058622
NM_006031.6(PCNT):c.9661del (p.Arg3221fs)
NM_006031.6(PCNT):c.9712C>T (p.Arg3238Ter)
NM_006031.6(PCNT):c.9752del (p.Pro3251fs)
NM_006031.6(PCNT):c.9820del (p.Ser3274fs)
NM_006031.6(PCNT):c.9838A>T (p.Arg3280Ter)
NM_006031.6(PCNT):c.9860C>G (p.Ser3287Ter)
NM_006031.6(PCNT):c.9870_9873del (p.Glu3290fs)
NM_006031.6(PCNT):c.9885_9886insGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTCCGCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATCCCTGACTGCT (p.Ala3295_Ser3296insGlyCysProValTrpLysValArgSerValSerAlaArgProProSerHisLeuGlySerGluGluArgXaaXaaXaaXaaLysLysLysLysLysLysLysArgSerLeuThrAla)

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