ClinVar Miner

List of variants reported as uncertain significance by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys) rs146970901 0.00242
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_014669.5(NUP93):c.621C>G (p.Asp207Glu) rs140226964 0.00080
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00049
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) rs183103554 0.00039
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539 0.00033
NM_004924.6(ACTN4):c.1279G>A (p.Ala427Thr) rs201128110 0.00029
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295 0.00025
NM_000091.5(COL4A3):c.221C>T (p.Pro74Leu) rs373975901 0.00024
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) rs149972318 0.00023
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) rs200989750 0.00023
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) rs199655229 0.00022
NM_004621.6(TRPC6):c.218G>A (p.Arg73His) rs371919016 0.00022
NM_018685.5(ANLN):c.524C>T (p.Pro175Leu) rs148482760 0.00022
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp) rs150851309 0.00021
NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala) rs760162354 0.00019
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) rs121434391 0.00018
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile) rs150672907 0.00017
NM_000091.5(COL4A3):c.1310C>T (p.Pro437Leu) rs148686474 0.00016
NM_000451.4(SHOX):c.544+10G>A rs369095468 0.00016
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000092.5(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_000092.5(COL4A4):c.190C>T (p.Arg64Trp) rs200668675 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) rs151171179 0.00011
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr) rs111458906 0.00011
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_000091.5(COL4A3):c.2636C>T (p.Pro879Leu) rs368342782 0.00009
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413 0.00009
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001319074.4(RAX2):c.275C>T (p.Ser92Leu) rs754730849 0.00009
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) rs886039885 0.00009
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_000092.5(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578 0.00007
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_000091.5(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986 0.00006
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly) rs753208968 0.00006
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001177316.2(SLC34A3):c.1211-36G>A rs748121039 0.00006
NM_002473.6(MYH9):c.5081G>A (p.Arg1694His) rs538330756 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_020041.3(SLC2A9):c.759G>A (p.Pro253=) rs747410628 0.00006
NM_032119.4(ADGRV1):c.3203G>A (p.Arg1068Lys) rs202151375 0.00006
NM_173689.7(CRB2):c.1600C>T (p.Arg534Trp) rs759002273 0.00006
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000451.4(SHOX):c.-65C>A rs922062046 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys) rs782246021 0.00005
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334 0.00005
NM_033380.3(COL4A5):c.4414C>T (p.Arg1472Cys) rs746184634 0.00005
NM_000064.4(C3):c.769G>A (p.Ala257Thr) rs200918899 0.00004
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr) rs371548242 0.00004
NM_000091.5(COL4A3):c.4772C>T (p.Ser1591Phe) rs558813497 0.00004
NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn) rs377575924 0.00004
NM_000092.5(COL4A4):c.1668G>T (p.Lys556Asn) rs764279454 0.00004
NM_000092.5(COL4A4):c.4417C>A (p.Gln1473Lys) rs766771700 0.00004
NM_000092.5(COL4A4):c.4513C>G (p.Gln1505Glu) rs756535060 0.00004
NM_000092.5(COL4A4):c.4640C>T (p.Ala1547Val) rs780916516 0.00004
NM_000092.5(COL4A4):c.4718C>T (p.Ala1573Val) rs762613810 0.00004
NM_000092.5(COL4A4):c.723A>C (p.Gln241His) rs201673987 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001319074.4(RAX2):c.92G>A (p.Arg31His) rs373009969 0.00004
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser) rs375390710 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu) rs768981892 0.00004
NM_000091.5(COL4A3):c.1022G>A (p.Arg341His) rs200738124 0.00003
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712 0.00003
NM_000092.5(COL4A4):c.665C>T (p.Pro222Leu) rs773533313 0.00003
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00003
NM_000335.5(SCN5A):c.536G>A (p.Arg179Gln) rs760585484 0.00003
NM_000390.4(CHM):c.189+5A>G rs757833413 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met) rs199637120 0.00003
NM_001734.5(C1S):c.733C>T (p.Arg245Trp) rs147971272 0.00003
NM_003482.4(KMT2D):c.7249T>G (p.Ser2417Ala) rs1057516188 0.00003
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) rs201363468 0.00003
NM_004621.6(TRPC6):c.673C>G (p.Leu225Val) rs201368333 0.00003
NM_018685.5(ANLN):c.191C>G (p.Pro64Arg) rs200238245 0.00003
NM_173689.7(CRB2):c.3190C>T (p.Pro1064Ser) rs868484209 0.00003
NM_173689.7(CRB2):c.3613G>A (p.Gly1205Ser) rs779586424 0.00003
NM_000091.5(COL4A3):c.1978C>A (p.Pro660Thr) rs773674552 0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) rs375951438 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001025616.3(ARHGAP24):c.892C>T (p.Arg298Cys) rs143423680 0.00002
NM_001174147.2(LMX1B):c.1151G>A (p.Arg384His) rs143906016 0.00002
NM_007118.4(TRIO):c.5386C>A (p.Leu1796Met) rs766716332 0.00002
NM_016341.4(PLCE1):c.5549G>A (p.Cys1850Tyr) rs776276690 0.00002
NM_018685.5(ANLN):c.1138C>T (p.Arg380Cys) rs201613256 0.00002
NM_022489.4(INF2):c.3040+2T>C rs1437272364 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_032119.4(ADGRV1):c.10727A>G (p.Tyr3576Cys) rs778286042 0.00002
NM_033380.3(COL4A5):c.2533A>G (p.Lys845Glu) rs992950790 0.00002
NM_000064.4(C3):c.322G>A (p.Val108Met) rs747923416 0.00001
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.250C>A (p.Pro84Thr) rs572059687 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1820C>T (p.Ala607Val) rs373916569 0.00001
NM_000092.5(COL4A4):c.2549C>T (p.Ala850Val) rs758199486 0.00001
NM_000092.5(COL4A4):c.2969-10A>G rs1576130915 0.00001
NM_000092.5(COL4A4):c.3590T>C (p.Val1197Ala) rs946572297 0.00001
NM_000092.5(COL4A4):c.4126C>T (p.Pro1376Ser) rs780131074 0.00001
NM_000092.5(COL4A4):c.4333+3A>G rs1455105815 0.00001
NM_000092.5(COL4A4):c.475C>T (p.Pro159Ser) rs760873029 0.00001
NM_000092.5(COL4A4):c.5015A>C (p.Glu1672Ala) rs1354826968 0.00001
NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371 0.00001
NM_000092.5(COL4A4):c.673C>A (p.Pro225Thr) rs370606294 0.00001
NM_000092.5(COL4A4):c.735G>A (p.Pro245=) rs923865420 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_000214.3(JAG1):c.3064C>T (p.Arg1022Trp) rs1057516205 0.00001
NM_000238.4(KCNH2):c.614C>T (p.Pro205Leu) rs1326885330 0.00001
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001080512.3(BICC1):c.933G>A (p.Met311Ile) rs1348392909 0.00001
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile) rs375136665 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=) rs753765611 0.00001
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) rs1271096223 0.00001
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) rs1057516209 0.00001
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) rs573842877 0.00001
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) rs1242945827 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002473.6(MYH9):c.1730T>C (p.Val577Ala) rs1479935984 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355 0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541 0.00001
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) rs762905275 0.00001
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met) rs771307472 0.00001
NM_004621.6(TRPC6):c.364C>T (p.His122Tyr) rs774329493 0.00001
NM_004621.6(TRPC6):c.769G>A (p.Asp257Asn) rs1565221149 0.00001
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr) rs779765397 0.00001
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744 0.00001
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser) rs1363908468 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_020366.4(RPGRIP1):c.3238+3A>G rs1389509266 0.00001
NM_020821.3(VPS13C):c.9020G>A (p.Arg3007Gln) rs778287890 0.00001
NM_022489.4(INF2):c.2908G>A (p.Val970Met) rs977752085 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_024426.6(WT1):c.977G>C (p.Gly326Ala) rs766054482 0.00001
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) rs773831304 0.00001
NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr) rs764933317 0.00001
NM_033380.3(COL4A5):c.4586T>C (p.Ile1529Thr) rs749580257 0.00001
NM_138927.4(SON):c.7091T>C (p.Met2364Thr) rs2086383610 0.00001
NM_145207.3(AFG2A):c.2440C>T (p.Pro814Ser) rs1246300838 0.00001
NM_173689.7(CRB2):c.3559A>C (p.Thr1187Pro) rs1554785663 0.00001
NM_182476.3(COQ6):c.357G>C (p.Gln119His) rs778339208 0.00001
NM_000091.5(COL4A3):c.2374+9dup rs1553759691
NM_000091.5(COL4A3):c.2610G>A (p.Leu870=) rs886039889
NM_000091.5(COL4A3):c.3200C>G (p.Pro1067Arg) rs55849096
NM_000091.5(COL4A3):c.3416C>T (p.Pro1139Leu) rs1057516186
NM_000091.5(COL4A3):c.3790A>G (p.Ile1264Val) rs1553764410
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000092.5(COL4A4):c.1379G>A (p.Cys460Tyr) rs753659852
NM_000092.5(COL4A4):c.1792C>T (p.Pro598Ser) rs1411689737
NM_000092.5(COL4A4):c.3103A>G (p.Thr1035Ala) rs1553638898
NM_000092.5(COL4A4):c.3829C>T (p.Pro1277Ser) rs1037084154
NM_000092.5(COL4A4):c.3878A>G (p.Asp1293Gly) rs1559450506
NM_000092.5(COL4A4):c.4440C>G (p.Cys1480Trp) rs774471575
NM_000092.5(COL4A4):c.4472A>G (p.Tyr1491Cys) rs1553613772
NM_000092.5(COL4A4):c.4562C>G (p.Pro1521Arg) rs1222616093
NM_000092.5(COL4A4):c.4730_4732del (p.Ala1577del) rs1559395809
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000095.3(COMP):c.1454G>A (p.Arg485His) rs2055164177
NM_000095.3(COMP):c.2150T>G (p.Met717Arg) rs1601049483
NM_000111.3(SLC26A3):c.1082A>G (p.Tyr361Cys) rs1584407007
NM_000140.5(FECH):c.229G>A (p.Gly77Arg) rs2051141708
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000162.5(GCK):c.255G>T (p.Arg85Ser) rs1554335758
NM_000162.5(GCK):c.989T>C (p.Phe330Ser) rs1554334872
NM_000169.3(GLA):c.1052T>A (p.Val351Glu) rs1928136207
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) rs1558356679
NM_000186.4(CFH):c.1336+4A>G rs1573028051
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) rs1573079762
NM_000186.4(CFH):c.59-10T>G rs1573008794
NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) rs1356598056
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) rs1579164519
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) rs1483694585
NM_000216.4(ANOS1):c.1955C>A (p.Thr652Lys) rs776867068
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr) rs1589910427
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) rs759356936
NM_000278.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_000278.5(PAX2):c.272C>T (p.Ala91Val) rs1589813617
NM_000297.4(PKD2):c.595+3A>T rs1331405684
NM_000335.5(SCN5A):c.3838-50A>C rs776046365
NM_000342.4(SLC4A1):c.1552C>T (p.Arg518Cys) rs868742796
NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe) rs1555596013
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe) rs377398404
NM_000361.3(THBD):c.1712C>T (p.Thr571Met) rs1166732867
NM_000363.5(TNNI3):c.206G>A (p.Arg69His) rs1401968020
NM_000376.3(VDR):c.1229G>T (p.Cys410Phe) rs1945243453
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) rs1060499700
NM_000393.5(COL5A2):c.2602C>A (p.Gln868Lys) rs1553514451
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) rs936722686
NM_000444.6(PHEX):c.1768+173A>G rs1602402549
NM_000451.4(SHOX):c.803A>G (p.Lys268Arg) rs1060499711
NM_000458.4(HNF1B):c.*37G>A rs1555818071
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys) rs1554652796
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro) rs1554653200
NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr) rs1586100993
NM_000518.5(HBB):c.-25T>C rs886039874
NM_000518.5(HBB):c.316-369G>A rs1589891886
NM_000548.5(TSC2):c.5155G>C (p.Ala1719Pro) rs201206500
NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met) rs1652955697
NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser) rs1312955440
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) rs1555446946
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.11270-10T>A rs1567154300
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln) rs1596636573
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro) rs1596576007
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del) rs2092536449
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro) rs2092477293
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile) rs1596558469
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro) rs2092204988
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro) rs1596527065
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro) rs556305338
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
NM_001009944.3(PKD1):c.9601_9603del (p.Ile3201del) rs1394021424
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala) rs1596513913
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp) rs1596512512
NM_001009999.3(KDM1A):c.1975C>T (p.Pro659Ser) rs767582484
NM_001069.3(TUBB2A):c.278-7C>T rs1581497078
NM_001080512.3(BICC1):c.937A>G (p.Arg313Gly) rs1843122601
NM_001080517.3(SETD5):c.1031G>A (p.Gly344Asp) rs1268639896
NM_001081.4(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001109809.5(ZFP57):c.724G>T (p.Asp242Tyr) rs1554211826
NM_001122630.2(CDKN1C):c.238T>C (p.Tyr80His) rs1060499712
NM_001126108.2(SLC12A3):c.1336-3C>A rs1295643797
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val) rs1060499698
NM_001127898.4(CLCN5):c.933+3A>C rs1602123559
NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys) rs1771988273
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr) rs1561993477
NM_001165963.4(SCN1A):c.4339-21C>G rs1690353601
NM_001173467.3(SP7):c.1093C>T (p.Arg365Ter) rs1427780619
NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu) rs374826755
NM_001177316.2(SLC34A3):c.1210G>A (p.Gly404Arg) rs759768852
NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg) rs1588849958
NM_001177316.2(SLC34A3):c.897C>G (p.Asn299Lys) rs1588846765
NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg) rs1938280351
NM_001199563.2(BVES):c.457C>T (p.Gln153Ter) rs1562137622
NM_001244008.2(KIF1A):c.4554C>G (p.Ser1518Arg) rs775395101
NM_001267550.2(TTN):c.46304+6C>T rs772406721
NM_001267550.2(TTN):c.48426T>A (p.Tyr16142Ter) rs1576476485
NM_001270.4(CHD1):c.470C>G (p.Pro157Arg) rs1580471120
NM_001270.4(CHD1):c.4894C>G (p.Arg1632Gly) rs374564623
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly) rs1596390679
NM_001348768.2(HECW2):c.2230G>A (p.Glu744Lys) rs772889074
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) rs1577986966
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn) rs1554404073
NM_001368894.2(PAX6):c.1266C>G (p.Pro422=) rs369180308
NM_001384910.1(GUCA1A):c.313_318del (p.Gly105_Cys106del) rs1582323230
NM_001692.4(ATP6V1B1):c.481GAG[1] (p.Glu162del) rs1572920649
NM_001737.5(C9):c.1677del (p.Lys559fs) rs762159491
NM_001844.5(COL2A1):c.1581+4_1581+7del rs1565682292
NM_001904.4(CTNNB1):c.43G>A (p.Glu15Lys) rs1575315288
NM_002473.6(MYH9):c.4261G>A (p.Glu1421Lys) rs1569534914
NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln) rs1603482802
NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr) rs1603482785
NM_002473.6(MYH9):c.5275-7_5275-5del rs780656298
NM_002473.6(MYH9):c.658G>A (p.Ala220Thr) rs1556637683
NM_002834.5(PTPN11):c.854-14T>A rs2038526676
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr) rs772983040
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221
NM_003052.5(SLC34A1):c.1708C>A (p.Pro570Thr) rs144700897
NM_003361.4(UMOD):c.998T>C (p.Leu333Pro) rs1965583936
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004523.4(KIF11):c.349G>T (p.Gly117Cys) rs1589590723
NM_004606.5(TAF1):c.352+7C>T rs2032710993
NM_004621.6(TRPC6):c.1747A>G (p.Arg583Gly) rs200107149
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) rs1591517921
NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly) rs768210838
NM_004646.4(NPHS1):c.41T>C (p.Leu14Pro) rs1060499706
NM_004836.7(EIF2AK3):c.503G>A (p.Arg168His) rs1003629254
NM_004924.6(ACTN4):c.1826A>G (p.Asn609Ser) rs777000965
NM_004990.4(MARS1):c.2640G>C (p.Lys880Asn) rs1594838677
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser) rs1572855029
NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly) rs1563983313
NM_006852.6(TLK2):c.34C>T (p.Arg12Trp) rs796730233
NM_007317.3(KIF22):c.1630C>G (p.Pro544Ala) rs1899240993
NM_012120.3(CD2AP):c.1516A>G (p.Asn506Asp) rs1582617802
NM_012120.3(CD2AP):c.670T>C (p.Ser224Pro) rs1582577489
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) rs1588768370
NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile) rs1968692991
NM_014669.5(NUP93):c.1837G>C (p.Ala613Pro) rs1596860697
NM_014669.5(NUP93):c.755T>A (p.Met252Lys) rs1596843391
NM_015375.3(DSTYK):c.1060C>T (p.Arg354Cys) rs573628666
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) rs775066754
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) rs1555794210
NM_015884.4(MBTPS2):c.175C>T (p.Arg59Cys) rs2092904689
NM_016120.4(RLIM):c.1364C>A (p.Ser455Tyr) rs1478259309
NM_016306.6(DNAJB11):c.743A>T (p.His248Leu) rs1715569679
NM_016341.3(PLCE1):c.[6093T>C;6800G>A]
NM_017780.4(CHD7):c.1740_1744delinsTC (p.Val581_Lys582delinsGln) rs1554588657
NM_017807.4(OSGEP):c.892A>T (p.Met298Leu) rs1566507605
NM_018129.4(PNPO):c.281C>T (p.Ala94Val) rs1555563203
NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn) rs745903672
NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu) rs1477304591
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro) rs1570660922
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) rs1564972874
NM_024426.6(WT1):c.1216A>G (p.Arg406Gly) rs1590338690
NM_024426.6(WT1):c.341C>T (p.Ala114Val) rs1311557029
NM_024426.6(WT1):c.512G>T (p.Gly171Val) rs1554946480
NM_024753.5(TTC21B):c.3761A>G (p.Tyr1254Cys) rs1553505260
NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly) rs751339540
NM_032119.4(ADGRV1):c.15353G>A (p.Ser5118Asn) rs756275299
NM_033116.6(NEK9):c.190G>A (p.Gly64Arg) rs1484479258
NM_033380.3(COL4A5):c.1683A>T (p.Gly561=) rs1569494020
NM_033380.3(COL4A5):c.1969C>A (p.Gln657Lys) rs1569494866
NM_033380.3(COL4A5):c.2245-3A>G rs1603293513
NM_033380.3(COL4A5):c.236A>T (p.Asp79Val) rs775277548
NM_033380.3(COL4A5):c.3148C>G (p.Pro1050Ala) rs143945573
NM_033380.3(COL4A5):c.3455-8T>G rs1569505503
NM_033380.3(COL4A5):c.3808+17G>A rs1603312557
NM_033380.3(COL4A5):c.4706+4A>C rs1569508999
NM_033380.3(COL4A5):c.4831G>A (p.Ala1611Thr) rs2068714182
NM_033380.3(COL4A5):c.4895C>T (p.Ser1632Leu) rs1556463567
NM_057176.3(BSND):c.64G>C (p.Gly22Arg) rs145048739
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr) rs1554875257
NM_138694.4(PKHD1):c.9253C>G (p.Gln3085Glu) rs1164973591
NM_172351.3(CD46):c.101C>T (p.Ala34Val) rs1571578126
NM_173689.7(CRB2):c.1151G>T (p.Cys384Phe) rs1198089043
NM_174878.3(CLRN1):c.209G>A (p.Gly70Asp) rs1559996059
NM_181332.3(NLGN4X):c.1661T>C (p.Phe554Ser) rs1601840441
NM_201384.3(PLEC):c.1419-10G>T rs1827885925
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_212482.4(FN1):c.6779_6781del (p.Asn2260_Val2261delinsIle) rs773415318

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.