ClinVar Miner

List of variants reported as uncertain significance by Sydney Genome Diagnostics, Children's Hospital Westmead

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys) rs145976111 0.00214
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) rs116606479 0.00068
NM_016341.4(PLCE1):c.1955+9del rs369558225 0.00053
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly) rs201056172 0.00019
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_004621.6(TRPC6):c.1611C>T (p.Phe537=) rs150183033 0.00012
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_004924.6(ACTN4):c.65C>T (p.Ala22Val) rs572451257 0.00009
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157 0.00006
NM_018685.5(ANLN):c.2347G>A (p.Glu783Lys) rs374099285 0.00006
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val) rs370860586 0.00006
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000204.5(CFI):c.1268C>A (p.Ala423Glu) rs555832641 0.00004
NM_000361.3(THBD):c.376G>T (p.Asp126Tyr) rs768667473 0.00004
NM_001378454.1(ALMS1):c.9083G>A (p.Cys3028Tyr) rs565501407 0.00004
NM_001395656.1(ROBO2):c.1930C>T (p.Arg644Cys) rs763833545 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_172351.3(CD46):c.70A>G (p.Met24Val) rs750342865 0.00004
NM_000092.5(COL4A4):c.4198A>G (p.Arg1400Gly) rs749483911 0.00003
NM_025074.7(FRAS1):c.8604+5G>A rs200282443 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_003052.5(SLC34A1):c.1715G>A (p.Trp572Ter) rs753244775 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile) rs751927256 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_000064.4(C3):c.1678G>A (p.Val560Met) rs1015875450 0.00001
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) rs199535288 0.00001
NM_000064.4(C3):c.2642G>A (p.Arg881His) rs1443451793 0.00001
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) rs191489530 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000338.3(SLC12A1):c.610G>T (p.Val204Phe) rs1442023118 0.00001
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile) rs747337202 0.00001
NM_000361.3(THBD):c.763G>C (p.Ala255Pro) rs1276712753 0.00001
NM_000537.4(REN):c.215C>A (p.Thr72Asn) rs557010306 0.00001
NM_001025616.3(ARHGAP24):c.550A>G (p.Lys184Glu) rs776254762 0.00001
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys) rs148893764 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_015662.3(IFT172):c.1295G>A (p.Arg432His) rs1327376049 0.00001
NM_024408.4(NOTCH2):c.1682-10C>A rs782581707 0.00001
NM_024753.5(TTC21B):c.1775T>C (p.Leu592Ser) rs1412135409 0.00001
NM_024753.5(TTC21B):c.3622A>G (p.Ile1208Val) rs760982788 0.00001
NM_025132.4(WDR19):c.3526C>T (p.Leu1176Phe) rs1735527919 0.00001
NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly) rs1283689984 0.00001
NM_033380.3(COL4A5):c.2329C>T (p.Arg777Cys) rs779033931 0.00001
NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser) rs1329800608 0.00001
NM_000091.5(COL4A3):c.4462G>C (p.Gly1488Arg) rs1574840156
NM_000186.4(CFH):c.2071T>C (p.Cys691Arg) rs1669151290
NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe) rs1653040477
NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr) rs1653040605
NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys) rs749403509
NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys) rs1653050051
NM_000204.5(CFI):c.292A>G (p.Thr98Ala) rs1478686846
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956
NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val) rs2041701051
NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile) rs2047339489
NM_000388.4(CASR):c.2710G>C (p.Gly904Arg) rs2074943924
NM_001080512.3(BICC1):c.1005G>T (p.Gln335His) rs1187480950
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser) rs2055210264
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys) rs777612082
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile) rs1424832490
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val) rs1964378547
NM_001378454.1(ALMS1):c.7740G>C (p.Glu2580Asp) rs543921060
NM_001378615.1(CC2D2A):c.2671G>C (p.Glu891Gln) rs863225178
NM_001378615.1(CC2D2A):c.3056G>A (p.Arg1019Gln) rs746926711
NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu) rs769727763
NM_001384732.1(CPLANE1):c.1840T>C (p.Cys614Arg) rs1796552273
NM_001384732.1(CPLANE1):c.6430C>G (p.Pro2144Ala) rs1779345100
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln) rs1680670309
NM_002292.4(LAMB2):c.1104T>G (p.Asn368Lys) rs2045467851
NM_002292.4(LAMB2):c.2224G>A (p.Ala742Thr) rs959473971
NM_002292.4(LAMB2):c.2344C>T (p.Pro782Ser) rs199837675
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg) rs889576974
NM_003361.4(UMOD):c.698G>T (p.Gly233Val) rs1965720354
NM_003361.4(UMOD):c.768C>G (p.Cys256Trp) rs774838407
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu) rs766919534
NM_003482.4(KMT2D):c.10909C>T (p.Pro3637Ser) rs775182190
NM_004621.6(TRPC6):c.2645-1G>A rs1858801099
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln) rs1860201767
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_007214.5(SEC63):c.1936-8G>T rs115710123
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val) rs768466784
NM_014425.5(INVS):c.491A>G (p.His164Arg) rs1831445914
NM_015102.5(NPHP4):c.871_889delinsC (p.Val291_Phe297delinsLeu) rs1553186265
NM_015662.3(IFT172):c.2327C>T (p.Ala776Val) rs1317766293
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala) rs1463411745
NM_016341.4(PLCE1):c.6821A>G (p.Gln2274Arg) rs375606039
NM_020762.4(SRGAP1):c.2566C>G (p.Pro856Ala) rs748723181
NM_020975.6(RET):c.1934_1936del (p.Ser645del) rs1416677590
NM_022489.4(INF2):c.2587G>T (p.Glu863Ter) rs1890103037
NM_024426.6(WT1):c.1411C>A (p.Leu471Met) rs1851831198
NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys) rs866812916
NM_025074.7(FRAS1):c.1867T>C (p.Cys623Arg) rs1560650709
NM_025074.7(FRAS1):c.7832A>G (p.Tyr2611Cys) rs1480978100
NM_025114.4(CEP290):c.4102G>C (p.Asp1368His) rs184143186
NM_033380.3(COL4A5):c.1033-3A>G rs2066339277
NM_033380.3(COL4A5):c.3262C>T (p.Pro1088Ser) rs2067818149
NM_033380.3(COL4A5):c.434C>T (p.Pro145Leu) rs2066063898
NM_033380.3(COL4A5):c.4529-11A>G rs2068656107
NM_033380.3(COL4A5):c.5074T>A (p.Ter1692Lys) rs2068734296
NM_138694.4(PKHD1):c.8351A>G (p.Tyr2784Cys) rs1793710520
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
NM_172351.3(CD46):c.476-6_476-5delinsG rs1656165500
NM_207361.6(FREM2):c.6041A>T (p.Asp2014Val) rs548838018

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.