ClinVar Miner

List of variants studied for polycystic kidney disease 1 by MVZ Medizinische Genetik Mainz

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.10261_10264del (p.Pro3421fs)
NM_001009944.3(PKD1):c.10289_10305dup (p.Gln3436fs)
NM_001009944.3(PKD1):c.10290G>A (p.Val3430=)
NM_001009944.3(PKD1):c.10307_10329del (p.Gln3436fs)
NM_001009944.3(PKD1):c.10321_10325del (p.Gln3441fs)
NM_001009944.3(PKD1):c.10563_10567del (p.Ser3523fs)
NM_001009944.3(PKD1):c.10615_10618+1del
NM_001009944.3(PKD1):c.10670T>G (p.Leu3557Arg)
NM_001009944.3(PKD1):c.10698GGCTGT[1] (p.3567AV[1])
NM_001009944.3(PKD1):c.10711dup (p.Ala3571fs)
NM_001009944.3(PKD1):c.10720G>C (p.Gly3574Arg)
NM_001009944.3(PKD1):c.10771T>C (p.Ser3591Pro)
NM_001009944.3(PKD1):c.10802T>G (p.Leu3601Arg)
NM_001009944.3(PKD1):c.10822-30_10852del
NM_001009944.3(PKD1):c.10846_10847dup (p.Leu3617fs)
NM_001009944.3(PKD1):c.10945C>T (p.Pro3649Ser)
NM_001009944.3(PKD1):c.10961_10982del (p.Leu3654fs)
NM_001009944.3(PKD1):c.11002_11003dup (p.Gly3669fs)
NM_001009944.3(PKD1):c.11023del (p.Leu3675fs)
NM_001009944.3(PKD1):c.11057T>G (p.Leu3686Arg)
NM_001009944.3(PKD1):c.11098C>T (p.Arg3700Cys)
NM_001009944.3(PKD1):c.11150T>G (p.Ile3717Ser)
NM_001009944.3(PKD1):c.11152_11153del (p.Thr3718fs)
NM_001009944.3(PKD1):c.1118_1119delinsGT (p.Leu373Arg)
NM_001009944.3(PKD1):c.11192_11193delinsCT (p.Leu3731Pro)
NM_001009944.3(PKD1):c.11253G>T (p.Gln3751His)
NM_001009944.3(PKD1):c.11270-4del
NM_001009944.3(PKD1):c.11315_11321del (p.Ala3772fs)
NM_001009944.3(PKD1):c.11389dup (p.Tyr3797fs)
NM_001009944.3(PKD1):c.11412-1G>C
NM_001009944.3(PKD1):c.11412-7_11468del
NM_001009944.3(PKD1):c.11454C>T (p.Gly3818=)
NM_001009944.3(PKD1):c.11488_11489del (p.Ser3830fs)
NM_001009944.3(PKD1):c.11532C>A (p.Asp3844Glu)
NM_001009944.3(PKD1):c.11538-51_11554del
NM_001009944.3(PKD1):c.11557G>A (p.Glu3853Lys)
NM_001009944.3(PKD1):c.11633_11646del (p.Arg3878fs)
NM_001009944.3(PKD1):c.11642C>A (p.Ala3881Asp)
NM_001009944.3(PKD1):c.11650del (p.Ser3884fs)
NM_001009944.3(PKD1):c.11674_11695del (p.Arg3892fs)
NM_001009944.3(PKD1):c.11693_11702del (p.Ser3898fs)
NM_001009944.3(PKD1):c.11800_11801del (p.Gly3934fs)
NM_001009944.3(PKD1):c.11843C>G (p.Thr3948Arg)
NM_001009944.3(PKD1):c.11881_11981del (p.Arg3961fs)
NM_001009944.3(PKD1):c.11939T>G (p.Val3980Gly)
NM_001009944.3(PKD1):c.11989del (p.Leu3997fs)
NM_001009944.3(PKD1):c.11995_11996dup (p.Leu3999fs)
NM_001009944.3(PKD1):c.12004-1G>A
NM_001009944.3(PKD1):c.1202-10C>A
NM_001009944.3(PKD1):c.12119A>G (p.Tyr4040Cys)
NM_001009944.3(PKD1):c.12144_12145del (p.Ser4049fs)
NM_001009944.3(PKD1):c.1217G>A (p.Cys406Tyr)
NM_001009944.3(PKD1):c.12381C>A (p.Tyr4127Ter)
NM_001009944.3(PKD1):c.123_129del (p.Gly44fs)
NM_001009944.3(PKD1):c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)
NM_001009944.3(PKD1):c.12413G>A (p.Arg4138His)
NM_001009944.3(PKD1):c.12464T>A (p.Phe4155Tyr)
NM_001009944.3(PKD1):c.12464T>C (p.Phe4155Ser)
NM_001009944.3(PKD1):c.12570dup (p.Ser4191fs)
NM_001009944.3(PKD1):c.12605del (p.Gly4202fs)
NM_001009944.3(PKD1):c.12615dup (p.Thr4206fs)
NM_001009944.3(PKD1):c.1282_1296del (p.Ala428_Ala432del)
NM_001009944.3(PKD1):c.12911A>G (p.Ter4304Trp)
NM_001009944.3(PKD1):c.1322_1339del (p.Gly441_Met446del)
NM_001009944.3(PKD1):c.1331T>C (p.Leu444Pro)
NM_001009944.3(PKD1):c.1429G>T (p.Glu477Ter)
NM_001009944.3(PKD1):c.146T>G (p.Val49Gly)
NM_001009944.3(PKD1):c.1491del (p.Glu499fs)
NM_001009944.3(PKD1):c.1501C>T (p.His501Tyr)
NM_001009944.3(PKD1):c.151T>A (p.Cys51Ser)
NM_001009944.3(PKD1):c.1546del (p.Trp516fs)
NM_001009944.3(PKD1):c.1564T>G (p.Cys522Gly)
NM_001009944.3(PKD1):c.1588_1592del (p.Cys530fs)
NM_001009944.3(PKD1):c.1606+2T>G
NM_001009944.3(PKD1):c.1628dup (p.Asn543fs)
NM_001009944.3(PKD1):c.1787C>A (p.Thr596Asn)
NM_001009944.3(PKD1):c.1850-1G>A
NM_001009944.3(PKD1):c.2097G>C (p.Ser699=)
NM_001009944.3(PKD1):c.215+1G>T
NM_001009944.3(PKD1):c.2153A>G (p.Gln718Arg)
NM_001009944.3(PKD1):c.2156A>G (p.His719Arg)
NM_001009944.3(PKD1):c.2674del (p.Thr892fs)
NM_001009944.3(PKD1):c.2850del (p.Leu950_Val951insTer)
NM_001009944.3(PKD1):c.2853+5G>C
NM_001009944.3(PKD1):c.2857T>G (p.Tyr953Asp)
NM_001009944.3(PKD1):c.2948A>G (p.Asn983Ser)
NM_001009944.3(PKD1):c.2952_2955del (p.Tyr986fs)
NM_001009944.3(PKD1):c.2962_2985+1del
NM_001009944.3(PKD1):c.2966_2970del (p.Ala989fs)
NM_001009944.3(PKD1):c.2985+3del
NM_001009944.3(PKD1):c.3121del (p.Ala1041fs)
NM_001009944.3(PKD1):c.3160del (p.Leu1054fs)
NM_001009944.3(PKD1):c.3161+1G>C
NM_001009944.3(PKD1):c.3161T>C (p.Leu1054Pro)
NM_001009944.3(PKD1):c.3162-1G>A
NM_001009944.3(PKD1):c.3162-1G>T
NM_001009944.3(PKD1):c.3162-3C>G
NM_001009944.3(PKD1):c.3240dup (p.Ser1081fs)
NM_001009944.3(PKD1):c.3277C>G (p.His1093Asp)
NM_001009944.3(PKD1):c.3294_3295+5del
NM_001009944.3(PKD1):c.3441C>A (p.Tyr1147Ter)
NM_001009944.3(PKD1):c.3586_3587del (p.Thr1196fs)
NM_001009944.3(PKD1):c.3613del (p.Asp1205fs)
NM_001009944.3(PKD1):c.3745G>A (p.Asp1249Asn)
NM_001009944.3(PKD1):c.3764del (p.Gly1255fs)
NM_001009944.3(PKD1):c.381dup (p.Glu128Ter)
NM_001009944.3(PKD1):c.3930_3931insCA (p.Ala1311fs)
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)
NM_001009944.3(PKD1):c.4023dup (p.Cys1342fs)
NM_001009944.3(PKD1):c.4138_4164del (p.Val1380_Glu1388del)
NM_001009944.3(PKD1):c.417G>C (p.Trp139Cys)
NM_001009944.3(PKD1):c.4282_4291del (p.Arg1427_Gly1428insTer)
NM_001009944.3(PKD1):c.4308_4339del (p.Asp1437fs)
NM_001009944.3(PKD1):c.4355C>T (p.Ser1452Phe)
NM_001009944.3(PKD1):c.4493A>G (p.Tyr1498Cys)
NM_001009944.3(PKD1):c.4521G>A (p.Trp1507Ter)
NM_001009944.3(PKD1):c.4753del (p.Cys1585fs)
NM_001009944.3(PKD1):c.4831G>T (p.Val1611Phe)
NM_001009944.3(PKD1):c.512T>A (p.Leu171Ter)
NM_001009944.3(PKD1):c.5207_5209delinsGCC (p.Val1736_Thr1737delinsGlyPro)
NM_001009944.3(PKD1):c.5249A>G (p.Tyr1750Cys)
NM_001009944.3(PKD1):c.5266G>T (p.Glu1756Ter)
NM_001009944.3(PKD1):c.52T>C (p.Trp18Arg)
NM_001009944.3(PKD1):c.5497A>C (p.Thr1833Pro)
NM_001009944.3(PKD1):c.5615T>G (p.Val1872Gly)
NM_001009944.3(PKD1):c.5669_5682dup (p.Ser1895fs)
NM_001009944.3(PKD1):c.5756T>C (p.Phe1919Ser)
NM_001009944.3(PKD1):c.576_586del (p.Ala193fs)
NM_001009944.3(PKD1):c.5839GTG[1] (p.Val1948del)
NM_001009944.3(PKD1):c.6011A>G (p.Tyr2004Cys)
NM_001009944.3(PKD1):c.6011_6016del (p.Tyr2004_Ala2005del)
NM_001009944.3(PKD1):c.6021C>G (p.Tyr2007Ter)
NM_001009944.3(PKD1):c.6191T>A (p.Val2064Glu)
NM_001009944.3(PKD1):c.6340T>C (p.Tyr2114His)
NM_001009944.3(PKD1):c.6346_6352del (p.Arg2116fs)
NM_001009944.3(PKD1):c.6360C>A (p.Tyr2120Ter)
NM_001009944.3(PKD1):c.6365T>A (p.Val2122Glu)
NM_001009944.3(PKD1):c.6380_6397dup (p.Phe2132_Phe2133insSerAsnLeuValSerPhe)
NM_001009944.3(PKD1):c.6383A>G (p.Asn2128Ser)
NM_001009944.3(PKD1):c.6549del (p.Glu2184fs)
NM_001009944.3(PKD1):c.6561G>C (p.Trp2187Cys)
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)
NM_001009944.3(PKD1):c.6638G>C (p.Arg2213Pro)
NM_001009944.3(PKD1):c.6640C>T (p.Pro2214Ser)
NM_001009944.3(PKD1):c.6660del (p.Leu2221fs)
NM_001009944.3(PKD1):c.6684C>G (p.Tyr2228Ter)
NM_001009944.3(PKD1):c.6700G>T (p.Val2234Leu)
NM_001009944.3(PKD1):c.6769del (p.Val2257fs)
NM_001009944.3(PKD1):c.7065G>A (p.Thr2355=)
NM_001009944.3(PKD1):c.7066-1G>C
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly)
NM_001009944.3(PKD1):c.7078_7081del (p.Ser2360fs)
NM_001009944.3(PKD1):c.7303dup (p.Arg2435fs)
NM_001009944.3(PKD1):c.7305_7309del (p.Gly2436fs)
NM_001009944.3(PKD1):c.7508_7518del (p.Asp2503fs)
NM_001009944.3(PKD1):c.7534del (p.Leu2512fs)
NM_001009944.3(PKD1):c.7664T>G (p.Val2555Gly)
NM_001009944.3(PKD1):c.7679_7690del (p.Gly2560_Val2563del)
NM_001009944.3(PKD1):c.7704-1G>C
NM_001009944.3(PKD1):c.771dup (p.Thr258fs)
NM_001009944.3(PKD1):c.782del (p.Gly261fs)
NM_001009944.3(PKD1):c.7884_7903dup (p.Glu2635fs)
NM_001009944.3(PKD1):c.7887_7888insTGTGGCG (p.Ala2630fs)
NM_001009944.3(PKD1):c.8272_8283del (p.Ala2758_Arg2761del)
NM_001009944.3(PKD1):c.8324_8325insA (p.Leu2776fs)
NM_001009944.3(PKD1):c.8332_8344dup (p.Val2782fs)
NM_001009944.3(PKD1):c.8355C>T (p.Gly2785=)
NM_001009944.3(PKD1):c.8374del (p.Ser2792fs)
NM_001009944.3(PKD1):c.8480_8481insCT (p.Leu2828fs)
NM_001009944.3(PKD1):c.8493dup (p.Asn2832fs)
NM_001009944.3(PKD1):c.8530_8538del (p.Val2844_Thr2846del)
NM_001009944.3(PKD1):c.8554del (p.Ala2852fs)
NM_001009944.3(PKD1):c.8574_8580del (p.Ala2859fs)
NM_001009944.3(PKD1):c.8691del (p.Val2898fs)
NM_001009944.3(PKD1):c.8757del (p.Leu2920fs)
NM_001009944.3(PKD1):c.8840A>C (p.His2947Pro)
NM_001009944.3(PKD1):c.8978T>G (p.Leu2993Arg)
NM_001009944.3(PKD1):c.8993A>C (p.His2998Pro)
NM_001009944.3(PKD1):c.899dup (p.Thr301fs)
NM_001009944.3(PKD1):c.9038C>T (p.Ser3013Phe)
NM_001009944.3(PKD1):c.9045C>G (p.Cys3015Trp)
NM_001009944.3(PKD1):c.9048del (p.Gln3016fs)
NM_001009944.3(PKD1):c.9049T>G (p.Tyr3017Asp)
NM_001009944.3(PKD1):c.9185_9188dup (p.Phe3064fs)
NM_001009944.3(PKD1):c.9373A>G (p.Lys3125Glu)
NM_001009944.3(PKD1):c.9386del (p.Gly3129fs)
NM_001009944.3(PKD1):c.9417del (p.Ile3140fs)
NM_001009944.3(PKD1):c.9430G>C (p.Gly3144Arg)
NM_001009944.3(PKD1):c.9496dup (p.Asp3166fs)
NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)
NM_001009944.3(PKD1):c.9593A>C (p.Gln3198Pro)
NM_001009944.3(PKD1):c.9644T>A (p.Val3215Asp)
NM_001009944.3(PKD1):c.9661del (p.Val3221fs)
NM_001009944.3(PKD1):c.9697dup (p.Glu3233fs)
NM_001009944.3(PKD1):c.9754G>A (p.Glu3252Lys)
NM_001009944.3(PKD1):c.9756_9771dup (p.Phe3258fs)
NM_001009944.3(PKD1):c.9805C>T (p.Arg3269Trp)
NM_001009944.3(PKD1):c.9841G>C (p.Ala3281Pro)
NM_001009944.3(PKD1):c.9851G>A (p.Cys3284Tyr)
NM_001009944.3(PKD1):c.9863del (p.Ile3288fs)

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