ClinVar Miner

List of variants reported as pathogenic for not provided by Gharavi Laboratory, Columbia University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs) rs386833873 0.00089
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_015102.5(NPHP4):c.133C>T (p.Gln45Ter) rs370210428 0.00004
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) rs63750875 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter) rs119456961 0.00002
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter) rs121918040 0.00001
NM_000297.4(PKD2):c.2533C>T (p.Arg845Ter) rs369678636 0.00001
NM_000297.4(PKD2):c.637C>T (p.Arg213Ter) rs1302726543 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001174147.2(LMX1B):c.736C>T (p.Arg246Ter) rs1554728698 0.00001
NM_001692.4(ATP6V1B1):c.497del (p.Thr166fs) rs782152033 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp) rs74315348 0.00001
NM_033380.3(COL4A5):c.2510-2A>G rs760109866 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_000039.3(APOA1):c.532_533dup (p.His179fs) rs781350389
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.2623_2624del (p.Val875fs) rs876658928
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000091.5(COL4A3):c.2881+1G>T rs1559899827
NM_000092.5(COL4A4):c.1623+1G>A rs1559590037
NM_000092.5(COL4A4):c.1889del (p.Pro630fs) rs757688183
NM_000092.5(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs) rs1559508134
NM_000092.5(COL4A4):c.3109_3110del (p.Leu1037fs) rs1559500363
NM_000092.5(COL4A4):c.3861_3862insTC (p.Arg1288fs) rs1559450594
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4621_4624dup (p.Trp1542fs) rs1559396675
NM_000092.5(COL4A4):c.4768C>T (p.Gln1590Ter) rs1559395617
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.730G>C (p.Asp244His) rs727503948
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000214.3(JAG1):c.148C>T (p.Gln50Ter) rs886039539
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000297.4(PKD2):c.203dup (p.Ala69fs) rs1187336837
NM_000297.4(PKD2):c.2240+1G>A rs1553927783
NM_000297.4(PKD2):c.2241-2A>G rs1560626499
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter) rs755226061
NM_000297.4(PKD2):c.538dup (p.Leu180fs) rs1371793191
NM_000297.4(PKD2):c.916C>T (p.Arg306Ter) rs200001068
NM_000297.4(PKD2):c.958C>T (p.Arg320Ter) rs749004212
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000490.5(AVP):c.322+2T>G rs1568733815
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg) rs1563630128
NM_000503.6(EYA1):c.418+1G>A rs886042006
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000535.7(PMS2):c.1239dup (p.Asp414fs) rs267608159
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) rs1566092307
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) rs753998395
NM_000545.8(HNF1A):c.787C>T (p.Arg263Cys) rs771108132
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001009944.3(PKD1):c.10151C>G (p.Ser3384Ter) rs1383556063
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
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.1206_1207del (p.His403fs) rs1567216675
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.1286G>T (p.Trp429Leu) rs1567216472
NM_001009944.3(PKD1):c.1722+1G>A rs1567214706
NM_001009944.3(PKD1):c.1723-2A>G rs1567214052
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2098-1G>C rs1567211807
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2298_2308del (p.Cys767fs) rs1567211181
NM_001009944.3(PKD1):c.2494dup (p.Arg832fs) rs1567210630
NM_001009944.3(PKD1):c.2966_2967insCC (p.Ala990fs) rs1567207841
NM_001009944.3(PKD1):c.3128del (p.Val1043fs) rs1567206632
NM_001009944.3(PKD1):c.384del (p.Glu128fs) rs1567219155
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4861C>T (p.Gln1621Ter) rs1264176877
NM_001009944.3(PKD1):c.5707C>T (p.Gln1903Ter) rs942694907
NM_001009944.3(PKD1):c.5824del (p.Arg1942fs) rs1567195285
NM_001009944.3(PKD1):c.5878C>T (p.Gln1960Ter) rs1567195059
NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) rs1555454739
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7490-2A>T rs1567185163
NM_001009944.3(PKD1):c.7493G>A (p.Trp2498Ter) rs1567185138
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.8017-2A>G rs1567180640
NM_001009944.3(PKD1):c.8427del (p.Glu2810fs) rs1567177760
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.8698C>T (p.Gln2900Ter) rs1567176750
NM_001009944.3(PKD1):c.9240_9241del (p.Ala3082fs) rs1567173924
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.964_965dup (p.His323fs) rs1567217428
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs) rs1567169638
NM_001018113.3(FANCB):c.1668del (p.Asp557fs) rs1569083679
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001042492.3(NF1):c.6147+1G>A rs1060500296
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.415+1G>A rs1569540051
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) rs121434394
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) rs121434395
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_014625.4(NPHS2):c.451+2T>A rs786204708
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) rs1559056633
NM_033380.3(COL4A5):c.2395+1G>C rs869025331
NM_033380.3(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_033380.3(COL4A5):c.2917+1G>C rs104886371
NM_033380.3(COL4A5):c.4315+1G>C rs587776403
NM_033380.3(COL4A5):c.4528+1G>A rs104886413
NM_033380.3(COL4A5):c.49_50del (p.Leu17fs) rs104886427
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter) rs281874753
NM_033380.3(COL4A5):c.546+2dup rs1569489353
NM_033380.3(COL4A5):c.594dup (p.Pro199fs) rs1569489863
NM_033380.3(COL4A5):c.635del (p.Pro212fs) rs104886065
NM_033380.3(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) rs104886074
NM_144997.7(FLCN):c.583G>T (p.Gly195Ter) rs1567819544
NM_173689.7(CRB2):c.2400C>G (p.Asn800Lys) rs765676223

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.