ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Juno Genomics, Hangzhou Juno Genomics, Inc

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met) rs777460980 0.00003
NM_001009944.3(PKD1):c.10405G>C (p.Asp3469His)
NM_001009944.3(PKD1):c.10807T>A (p.Trp3603Arg)
NM_001009944.3(PKD1):c.10817T>C (p.Leu3606Pro)
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.10834G>C (p.Ala3612Pro)
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.11359_11370del (p.Ser3787_Asn3790del)
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+5_11411+38delinsAGGG
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del) rs1596481630
NM_001009944.3(PKD1):c.11558A>G (p.Glu3853Gly)
NM_001009944.3(PKD1):c.11583_11594dup (p.Ala3865_Ala3866insGlyLeuHisAla)
NM_001009944.3(PKD1):c.11609G>C (p.Arg3870Pro)
NM_001009944.3(PKD1):c.11635_11649dup (p.Leu3883_Ser3884insAlaLeuAlaAlaLeu)
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
NM_001009944.3(PKD1):c.12029G>T (p.Arg4010Leu)
NM_001009944.3(PKD1):c.12056_12058del (p.Leu4019del)
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12464T>G (p.Phe4155Cys)
NM_001009944.3(PKD1):c.12489dup (p.Arg4164fs)
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter) rs2544579185
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
NM_001009944.3(PKD1):c.12716_12724del (p.Leu4239_Gln4241del)
NM_001009944.3(PKD1):c.12725_12756del (p.Gln4242fs)
NM_001009944.3(PKD1):c.1331T>G (p.Leu444Arg)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1827G>A (p.Val609=) rs905577227
NM_001009944.3(PKD1):c.2180_2182del (p.Leu727del)
NM_001009944.3(PKD1):c.231C>A (p.Asn77Lys)
NM_001009944.3(PKD1):c.2985+3A>C
NM_001009944.3(PKD1):c.2T>A (p.Met1Lys)
NM_001009944.3(PKD1):c.3161+6T>G
NM_001009944.3(PKD1):c.3268_3270del (p.Asn1090del)
NM_001009944.3(PKD1):c.3268_3276dup (p.Met1092_His1093insAsnValMet)
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr) rs1567202189
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4076T>C (p.Leu1359Pro) rs2544825186
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4303T>G (p.Tyr1435Asp)
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.436C>G (p.Arg146Gly)
NM_001009944.3(PKD1):c.4543C>G (p.His1515Asp)
NM_001009944.3(PKD1):c.4996T>C (p.Trp1666Arg)
NM_001009944.3(PKD1):c.5179C>G (p.Pro1727Ala)
NM_001009944.3(PKD1):c.5213T>G (p.Leu1738Arg)
NM_001009944.3(PKD1):c.6083A>C (p.Tyr2028Ser)
NM_001009944.3(PKD1):c.6218_6220del (p.Thr2073del)
NM_001009944.3(PKD1):c.6298_6306del (p.Ser2100_Gly2102del)
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
NM_001009944.3(PKD1):c.6650_6664del (p.Val2217_Leu2221del)
NM_001009944.3(PKD1):c.6655_6663del (p.Pro2219_Leu2221del)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.6916-10C>A
NM_001009944.3(PKD1):c.7065+2_7065+4del
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly) rs2544785366
NM_001009944.3(PKD1):c.7177T>C (p.Cys2393Arg)
NM_001009944.3(PKD1):c.7333_7359dup (p.Arg2453_Ser2454insThrPheThrLeuThrValLeuGlyArg)
NM_001009944.3(PKD1):c.7346C>T (p.Thr2449Met)
NM_001009944.3(PKD1):c.7426T>A (p.Cys2476Ser)
NM_001009944.3(PKD1):c.7490-3C>G
NM_001009944.3(PKD1):c.7589G>A (p.Gly2530Asp)
NM_001009944.3(PKD1):c.7625G>T (p.Gly2542Val)
NM_001009944.3(PKD1):c.7729C>T (p.Pro2577Ser)
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu) rs1555450923
NM_001009944.3(PKD1):c.9122C>A (p.Ala3041Asp)
NM_001009944.3(PKD1):c.9146C>T (p.Thr3049Ile) rs2151749645
NM_001009944.3(PKD1):c.9295G>C (p.Asp3099His)
NM_001009944.3(PKD1):c.9338G>A (p.Gly3113Glu)
NM_001009944.3(PKD1):c.9388_9393del (p.Arg3130_Gly3131del)
NM_001009944.3(PKD1):c.9397G>C (p.Gly3133Arg)
NM_001009944.3(PKD1):c.9448G>A (p.Gly3150Ser)
NM_001009944.3(PKD1):c.9460C>G (p.Leu3154Val)
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9568G>C (p.Gly3190Arg)
NM_001009944.3(PKD1):c.9712+2T>G
NM_001009944.3(PKD1):c.9782A>C (p.His3261Pro)

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