ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905 0.00024
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn) rs150189496 0.00012
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val) rs773989174 0.00011
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met) rs376160782 0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro) rs1166642512 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.4122C>G (p.Ile1374Met) rs757456211 0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met) rs758620810 0.00001
NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys) rs1279596250 0.00001
NM_001009944.3(PKD1):c.1001C>T (p.Thr334Met)
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu)
NM_001009944.3(PKD1):c.10291G>T (p.Gly3431Cys)
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val) rs114523369
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu)
NM_001009944.3(PKD1):c.10690C>T (p.Leu3564Phe)
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu)
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp)
NM_001009944.3(PKD1):c.10969G>A (p.Ala3657Thr)
NM_001009944.3(PKD1):c.10990G>A (p.Val3664Ile)
NM_001009944.3(PKD1):c.11017-6C>G
NM_001009944.3(PKD1):c.11036T>A (p.Leu3679His)
NM_001009944.3(PKD1):c.11099_11101dup (p.Arg3700_Leu3701insArg)
NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp)
NM_001009944.3(PKD1):c.11396C>T (p.Ala3799Val)
NM_001009944.3(PKD1):c.11425G>C (p.Gly3809Arg)
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp)
NM_001009944.3(PKD1):c.1162G>T (p.Ala388Ser)
NM_001009944.3(PKD1):c.11677C>G (p.Leu3893Val)
NM_001009944.3(PKD1):c.11677C>T (p.Leu3893Phe)
NM_001009944.3(PKD1):c.11748G>A (p.Val3916=)
NM_001009944.3(PKD1):c.11960C>T (p.Ala3987Val)
NM_001009944.3(PKD1):c.12067C>G (p.Leu4023Val)
NM_001009944.3(PKD1):c.12138+5G>C
NM_001009944.3(PKD1):c.12230C>T (p.Ala4077Val)
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe)
NM_001009944.3(PKD1):c.12418_12429del (p.Trp4140_Leu4143del)
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12439A>G (p.Lys4147Glu)
NM_001009944.3(PKD1):c.1247A>T (p.Asn416Ile)
NM_001009944.3(PKD1):c.12517C>T (p.Pro4173Ser)
NM_001009944.3(PKD1):c.12569C>T (p.Ser4190Phe)
NM_001009944.3(PKD1):c.12679G>T (p.Asp4227Tyr)
NM_001009944.3(PKD1):c.12844G>T (p.Asp4282Tyr)
NM_001009944.3(PKD1):c.12899C>T (p.Pro4300Leu)
NM_001009944.3(PKD1):c.1361G>C (p.Arg454Pro)
NM_001009944.3(PKD1):c.1364T>C (p.Phe455Ser)
NM_001009944.3(PKD1):c.1376G>A (p.Arg459Gln)
NM_001009944.3(PKD1):c.154T>C (p.Ser52Pro)
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp)
NM_001009944.3(PKD1):c.1816C>T (p.Arg606Trp)
NM_001009944.3(PKD1):c.2029G>A (p.Gly677Arg)
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr)
NM_001009944.3(PKD1):c.265A>G (p.Asn89Asp)
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile) rs1567219544
NM_001009944.3(PKD1):c.2985_2985+3del
NM_001009944.3(PKD1):c.3145G>A (p.Val1049Met)
NM_001009944.3(PKD1):c.3237C>G (p.Asp1079Glu)
NM_001009944.3(PKD1):c.3241T>C (p.Ser1081Pro)
NM_001009944.3(PKD1):c.3286G>A (p.Ala1096Thr)
NM_001009944.3(PKD1):c.3292C>A (p.Pro1098Thr)
NM_001009944.3(PKD1):c.3409G>A (p.Val1137Ile)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu) rs551162125
NM_001009944.3(PKD1):c.3697G>A (p.Ala1233Thr)
NM_001009944.3(PKD1):c.3725C>T (p.Thr1242Met)
NM_001009944.3(PKD1):c.3729G>T (p.Trp1243Cys)
NM_001009944.3(PKD1):c.3854G>A (p.Arg1285Gln)
NM_001009944.3(PKD1):c.3881T>C (p.Leu1294Pro)
NM_001009944.3(PKD1):c.3903_3926del (p.Ala1302_Pro1309del)
NM_001009944.3(PKD1):c.401C>T (p.Ala134Val)
NM_001009944.3(PKD1):c.4136A>G (p.Glu1379Gly) rs149210297
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp)
NM_001009944.3(PKD1):c.4307G>A (p.Arg1436Gln)
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro) rs757055929
NM_001009944.3(PKD1):c.4590G>C (p.Trp1530Cys)
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4675GTG[1] (p.Val1560del)
NM_001009944.3(PKD1):c.5168T>G (p.Val1723Gly)
NM_001009944.3(PKD1):c.5219C>T (p.Ala1740Val)
NM_001009944.3(PKD1):c.5431G>A (p.Glu1811Lys)
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val)
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=)
NM_001009944.3(PKD1):c.5699C>T (p.Ala1900Val)
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro) rs752388015
NM_001009944.3(PKD1):c.6089C>A (p.Pro2030His)
NM_001009944.3(PKD1):c.6113T>A (p.Ile2038Asn)
NM_001009944.3(PKD1):c.6130A>G (p.Asn2044Asp)
NM_001009944.3(PKD1):c.6173A>C (p.Gln2058Pro)
NM_001009944.3(PKD1):c.6227C>T (p.Ser2076Leu)
NM_001009944.3(PKD1):c.6285C>A (p.Asp2095Glu)
NM_001009944.3(PKD1):c.6299C>T (p.Ser2100Leu)
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
NM_001009944.3(PKD1):c.6392G>T (p.Ser2131Ile)
NM_001009944.3(PKD1):c.6506T>C (p.Leu2169Ser) rs2151787641
NM_001009944.3(PKD1):c.6557G>A (p.Arg2186His)
NM_001009944.3(PKD1):c.6589C>T (p.Arg2197Trp)
NM_001009944.3(PKD1):c.6649G>C (p.Val2217Leu)
NM_001009944.3(PKD1):c.6671C>T (p.Pro2224Leu)
NM_001009944.3(PKD1):c.6676G>C (p.Gly2226Arg)
NM_001009944.3(PKD1):c.6680A>C (p.His2227Pro)
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6764G>A (p.Arg2255His)
NM_001009944.3(PKD1):c.7061A>G (p.Gln2354Arg)
NM_001009944.3(PKD1):c.7175G>A (p.Arg2392His)
NM_001009944.3(PKD1):c.7241C>T (p.Thr2414Met)
NM_001009944.3(PKD1):c.7258A>G (p.Thr2420Ala)
NM_001009944.3(PKD1):c.7319A>G (p.Asp2440Gly)
NM_001009944.3(PKD1):c.7409C>A (p.Pro2470Gln)
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7411C>A (p.Pro2471Thr)
NM_001009944.3(PKD1):c.7457C>T (p.Ala2486Val)
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7657G>T (p.Val2553Leu)
NM_001009944.3(PKD1):c.7829A>C (p.Glu2610Ala)
NM_001009944.3(PKD1):c.7864-43_7864-16del
NM_001009944.3(PKD1):c.8034C>G (p.Leu2678=)
NM_001009944.3(PKD1):c.8162-74G>A
NM_001009944.3(PKD1):c.8180C>T (p.Ala2727Val)
NM_001009944.3(PKD1):c.8281C>T (p.Arg2761Cys)
NM_001009944.3(PKD1):c.8291T>A (p.Met2764Lys)
NM_001009944.3(PKD1):c.8330C>T (p.Ala2777Val)
NM_001009944.3(PKD1):c.8395G>A (p.Ala2799Thr)
NM_001009944.3(PKD1):c.848C>T (p.Pro283Leu)
NM_001009944.3(PKD1):c.8530G>C (p.Val2844Leu)
NM_001009944.3(PKD1):c.8680G>A (p.Ala2894Thr)
NM_001009944.3(PKD1):c.8684A>C (p.Asn2895Thr)
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu) rs2092181383
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.8929A>G (p.Thr2977Ala)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys)
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro) rs2092136027
NM_001009944.3(PKD1):c.9170T>G (p.Val3057Gly)
NM_001009944.3(PKD1):c.9359A>G (p.Tyr3120Cys)
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His)
NM_001009944.3(PKD1):c.9577C>G (p.Pro3193Ala)
NM_001009944.3(PKD1):c.9598G>A (p.Val3200Ile)
NM_001009944.3(PKD1):c.9632C>T (p.Ala3211Val)
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg)
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val)

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