List of variants studied for Polycystic kidney disease, adult type by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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		ClinVar version:

Total variants: 141

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HGVS	dbSNP	gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	rs144979397	0.00495
NM_001009944.3(PKD1):c.8344G>A (p.Val2782Met)	rs151089809	0.00054
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)	rs148812376	0.00032
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)	rs374500158	0.00029
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu)	rs748021456	0.00024
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg)	rs750430411	0.00010
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.10141C>T (p.Leu3381Phe)	rs142799331	0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)	rs530832015	0.00006
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu)	rs761540024	0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met)	rs780043149	0.00004
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)	rs773426104	0.00003
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys)	rs143453080	0.00003
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)	rs1163700577	0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)	rs144338515	0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	rs1555455457	0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)	rs556681288	0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del	rs1567180636	0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	rs1057518897	0.00001
NM_001009944.3(PKD1):c.9202-16G>A	rs1389523126	0.00001
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter)	rs2151729320
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10167+25_10167+43del	rs1197421698
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs)	rs2151726918
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs)	rs2151725680
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)	rs1057516041
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter)	rs1361283193
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs)	rs2151708652
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
NM_001009944.3(PKD1):c.10810G>A (p.Glu3604Lys)	rs2091722550
NM_001009944.3(PKD1):c.10822-3C>G
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
NM_001009944.3(PKD1):c.11017-25A>C	rs2151704874
NM_001009944.3(PKD1):c.11017-25A>G
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)	rs1555446330
NM_001009944.3(PKD1):c.11411+5G>A
NM_001009944.3(PKD1):c.11538-2A>C
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs)	rs2151695526
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter)	rs2091572700
NM_001009944.3(PKD1):c.11713-3C>A
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys)	rs747425659
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter)	rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)	rs777269070
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	rs764431330
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
NM_001009944.3(PKD1):c.12444+1G>A	rs2091431794
NM_001009944.3(PKD1):c.12445-17_12445-3del	rs2151678927
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs)	rs2151676915
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del)	rs1596588396
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter)	rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter)	rs2091391674
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
NM_001009944.3(PKD1):c.1385+1G>T
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met)	rs2855341
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs)	rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)	rs1567212531
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	rs1616940
NM_001009944.3(PKD1):c.2239G>A (p.Ala747Thr)
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
NM_001009944.3(PKD1):c.3162-1G>C
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg)	rs2151801930
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter)	rs780119305
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu)	rs770459654
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs)	rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter)	rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)	rs1567200117
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
NM_001009944.3(PKD1):c.4507G>A (p.Gly1503Arg)	rs2092478372
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter)	rs2151796950
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	rs1567198691
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs)	rs2092444151
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs)	rs2092433875
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)	rs2151788281
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del)	rs1555454460
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter)	rs1312494071
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter)	rs2092401442
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg)	rs1567187445
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs)	rs2092356759
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)	rs1367567191
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	rs797044902
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter)	rs28369051
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter)	rs2092321142
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)	rs1452322332
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
NM_001009944.3(PKD1):c.8267C>T (p.Thr2756Ile)
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)	rs879809222
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	rs1596527370
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)	rs1596527405
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	rs2092203712
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
NM_001009944.3(PKD1):c.9100GAG[1] (p.Glu3035del)
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)	rs2092053154
NM_001009944.3(PKD1):c.9559G>T (p.Asp3187Tyr)
NM_001009944.3(PKD1):c.9559_9561del (p.Asp3187del)
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala)	rs1085307551
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs)	rs2151740671
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)

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