ClinVar Miner

List of variants reported by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro) rs148386572 0.00222
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser) rs190384194 0.00070
NM_004795.4(KL):c.639C>A (p.Ala213=) rs387907445 0.00067
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_003361.4(UMOD):c.*8C>T rs199904726 0.00048
NM_153766.3(KCNJ1):c.262A>G (p.Lys88Glu) rs185212943 0.00043
NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr) rs387907405 0.00041
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_006984.5(CLDN10):c.505G>T (p.Ala169Ser) rs201348784 0.00024
NM_004795.4(KL):c.387C>T (p.Tyr129=) rs373385333 0.00021
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237 0.00019
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=) rs369565150 0.00018
NM_019841.7(TRPV5):c.33C>T (p.Pro11=) rs377258108 0.00016
NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys) rs370834972 0.00016
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
NM_001096.3(ACLY):c.-67C>T rs387907380 0.00013
NM_001288772.2(PIK3C2G):c.1077A>T (p.Lys359Asn) rs373231729 0.00013
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_019841.7(TRPV5):c.1035G>A (p.Thr345=) rs202171798 0.00013
NM_022829.6(SLC13A3):c.292A>T (p.Ile98Phe) rs201443231 0.00013
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=) rs201360775 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_004070.4(CLCNKA):c.74G>A (p.Cys25Tyr) rs373577135 0.00012
NM_005070.4(SLC4A3):c.2784G>A (p.Gly928=) rs387907534 0.00011
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_004252.5(NHERF1):c.33G>T (p.Leu11=) rs387907538 0.00010
NM_032387.5(WNK4):c.1323A>T (p.Glu441Asp) rs387907562 0.00010
NM_001288772.2(PIK3C2G):c.2714T>G (p.Leu905Arg) rs387907449 0.00009
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_019841.7(TRPV5):c.470G>A (p.Arg157His) rs387907544 0.00009
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00008
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr) rs374176452 0.00008
NM_000376.3(VDR):c.238C>A (p.Arg80=) rs387907554 0.00007
NM_003361.4(UMOD):c.567C>T (p.Tyr189=) rs387907553 0.00007
NM_004070.4(CLCNKA):c.1977A>G (p.Thr659=) rs387907408 0.00007
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=) rs373388521 0.00006
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001288772.2(PIK3C2G):c.3459G>A (p.Leu1153=) rs375555307 0.00006
NM_003052.5(SLC34A1):c.1912C>T (p.Arg638Cys) rs387907503 0.00006
NM_005070.4(SLC4A3):c.3066C>T (p.Ser1022=) rs376572581 0.00006
NM_018646.6(TRPV6):c.402C>T (p.Ala134=) rs387907545 0.00006
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 0.00004
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu) rs370019965 0.00004
NM_000338.3(SLC12A1):c.2262C>T (p.Asp754=) rs372953090 0.00004
NM_000376.3(VDR):c.259A>G (p.Ile87Val) rs387907555 0.00004
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201 0.00004
NM_003052.5(SLC34A1):c.303G>A (p.Leu101=) rs200493624 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) rs375288190 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000338.3(SLC12A1):c.1149C>T (p.Val383=) rs368339306 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_001096.3(ACLY):c.1395G>A (p.Ala465=) rs387907379 0.00003
NM_001098.3(ACO2):c.1927G>A (p.Val643Ile) rs387907390 0.00003
NM_001130012.3(NHERF2):c.486G>A (p.Gly162=) rs387907540 0.00003
NM_001288772.2(PIK3C2G):c.2918T>C (p.Val973Ala) rs387907453 0.00003
NM_001288772.2(PIK3C2G):c.3822C>A (p.Ser1274Arg) rs387907451 0.00003
NM_003040.4(SLC4A2):c.3559C>T (p.Leu1187=) rs387907527 0.00003
NM_003040.4(SLC4A2):c.646G>A (p.Gly216Arg) rs375977483 0.00003
NM_006984.5(CLDN10):c.420C>A (p.Asn140Lys) rs387907413 0.00003
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys) rs387907483 0.00003
NM_000342.4(SLC4A1):c.1284A>G (p.Gly428=) rs387907516 0.00002
NM_001096.3(ACLY):c.652G>A (p.Ala218Thr) rs387907387 0.00002
NM_001127898.4(CLCN5):c.1828G>A (p.Ala610Thr) rs387907403 0.00002
NM_003040.4(SLC4A2):c.94G>A (p.Glu32Lys) rs376056989 0.00002
NM_003984.4(SLC13A2):c.1370C>T (p.Pro457Leu) rs387907474 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met) rs387907533 0.00002
NM_019841.7(TRPV5):c.1829G>A (p.Arg610His) rs387907543 0.00002
NM_019841.7(TRPV5):c.535G>A (p.Val179Met) rs373756563 0.00002
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His) rs387907411 0.00001
NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu) rs387907412 0.00001
NM_000316.3(PTH1R):c.805C>T (p.Pro269Ser) rs387907462 0.00001
NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu) rs387907468 0.00001
NM_001096.3(ACLY):c.1484G>A (p.Arg495His) rs387907386 0.00001
NM_001098.3(ACO2):c.1776T>C (p.Cys592=) rs368044961 0.00001
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val) rs387907469 0.00001
NM_001146079.2(CLDN14):c.15C>T (p.Ala5=) rs387907416 0.00001
NM_001146079.2(CLDN14):c.18G>A (p.Val6=) rs387907417 0.00001
NM_001177316.2(SLC34A3):c.1051C>T (p.Arg351Cys) rs387907514 0.00001
NM_001177316.2(SLC34A3):c.585C>T (p.His195=) rs387907515 0.00001
NM_003361.4(UMOD):c.1028C>T (p.Ser343Leu) rs387907550 0.00001
NM_003361.4(UMOD):c.797C>T (p.Ala266Val) rs387907551 0.00001
NM_004070.4(CLCNKA):c.754C>T (p.Leu252Phe) rs387907407 0.00001
NM_004752.4(GCM2):c.477T>C (p.His159=) rs387907431 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_005984.5(SLC25A1):c.138C>A (p.Thr46=) rs387907477 0.00001
NM_018646.6(TRPV6):c.1463G>A (p.Ser488Asn) rs387907547 0.00001
NM_019841.7(TRPV5):c.966C>T (p.Asn322=) rs387907542 0.00001
NM_020638.3(FGF23):c.623A>G (p.Gln208Arg) rs387907425 0.00001
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met) rs387907484 0.00001
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser) rs387907486 0.00001
NM_022911.3(SLC26A6):c.1566G>A (p.Thr522=) rs387907501 0.00001
NM_022911.3(SLC26A6):c.1631G>A (p.Arg544His) rs387907495 0.00001
NM_032387.5(WNK4):c.1222A>T (p.Ile408Phe) rs369420670 0.00001
NM_032387.5(WNK4):c.1444C>T (p.Arg482Trp) rs387907556 0.00001
NM_032387.5(WNK4):c.2084C>G (p.Thr695Ser) rs387907561 0.00001
NM_032387.5(WNK4):c.3536C>T (p.Ala1179Val) rs387907560 0.00001
NM_148960.3(CLDN19):c.153G>T (p.Trp51Cys) rs387907418 0.00001
NM_148960.3(CLDN19):c.671T>A (p.Val224Glu) rs387907420 0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) rs387907439 0.00001
NM_199328.3(CLDN8):c.358C>T (p.Leu120=) rs370704016 0.00001
NM_000085.5(CLCNKB):c.1675G>A (p.Ala559Thr) rs387907410
NM_000112.4(SLC26A2):c.1215C>G (p.Ala405=) rs387907489
NM_000112.4(SLC26A2):c.1798T>C (p.Tyr600His) rs387907492
NM_000112.4(SLC26A2):c.1996A>G (p.Thr666Ala) rs387907490
NM_000112.4(SLC26A2):c.81C>G (p.Ile27Met) rs387907491
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000315.4(PTH):c.122A>G (p.Asn41Ser) rs387907454
NM_000315.4(PTH):c.300G>T (p.Glu100Asp) rs387907455
NM_000316.3(PTH1R):c.124C>T (p.His42Tyr) rs387907458
NM_000316.3(PTH1R):c.316C>T (p.Arg106Cys) rs387907461
NM_000316.3(PTH1R):c.526A>T (p.Asn176Tyr) rs387907457
NM_000316.3(PTH1R):c.678G>T (p.Leu226=) rs387907456
NM_000316.3(PTH1R):c.875T>C (p.Leu292Pro) rs387907459
NM_000338.3(SLC12A1):c.13A>G (p.Asn5Asp) rs387907466
NM_000338.3(SLC12A1):c.2176A>T (p.Lys726Ter) rs387907463
NM_000338.3(SLC12A1):c.2177A>T (p.Lys726Met) rs387907464
NM_000338.3(SLC12A1):c.503A>G (p.Glu168Gly) rs387907467
NM_000338.3(SLC12A1):c.510T>A (p.Asp170Glu) rs387907465
NM_000342.4(SLC4A1):c.1375C>T (p.Leu459=) rs387907517
NM_000388.4(CASR):c.1069A>T (p.Asn357Tyr) rs387907392
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1395G>A (p.Arg465=) rs387907391
NM_000388.4(CASR):c.1629C>T (p.Ser543=) rs387907399
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2920A>T (p.Thr974Ser) rs387907396
NM_000388.4(CASR):c.2944C>T (p.Pro982Ser) rs387907395
NM_000388.4(CASR):c.3107T>C (p.Val1036Ala) rs387907393
NM_000388.4(CASR):c.501T>C (p.Tyr167=) rs387907394
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398
NM_001096.3(ACLY):c.1122A>C (p.Thr374=) rs387907382
NM_001096.3(ACLY):c.1765G>A (p.Ala589Thr) rs387907381
NM_001096.3(ACLY):c.2747C>T (p.Ala916Val) rs387907385
NM_001096.3(ACLY):c.2895G>A (p.Lys965=) rs387907388
NM_001096.3(ACLY):c.465C>A (p.Gly155=) rs387907384
NM_001096.3(ACLY):c.789C>T (p.Ser263=) rs387907383
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001126108.2(SLC12A3):c.1429G>A (p.Ala477Thr) rs387907470
NM_001126108.2(SLC12A3):c.861G>T (p.Val287=) rs387907473
NM_001127898.4(CLCN5):c.1984G>A (p.Asp662Asn) rs387907404
NM_001127898.4(CLCN5):c.867C>T (p.Cys289=) rs387907402
NM_001130012.3(NHERF2):c.252G>A (p.Arg84=) rs387907539
NM_001146079.2(CLDN14):c.60C>T (p.Gly20=) rs387907415
NM_001146079.2(CLDN14):c.663G>A (p.Arg221=) rs387907414
NM_001177316.2(SLC34A3):c.218T>C (p.Val73Ala) rs387907511
NM_001177316.2(SLC34A3):c.245G>T (p.Ser82Ile) rs387907509
NM_001177316.2(SLC34A3):c.439G>A (p.Ala147Thr) rs387907512
NM_001177316.2(SLC34A3):c.472C>T (p.Pro158Ser) rs387907510
NM_001177316.2(SLC34A3):c.516C>G (p.Thr172=) rs387907513
NM_001177316.2(SLC34A3):c.572G>A (p.Gly191Asp) rs387907508
NM_001201325.2(PDZK1):c.62G>A (p.Gly21Asp) rs387907448
NM_001288772.2(PIK3C2G):c.2809A>T (p.Thr937Ser) rs387907452
NM_001288772.2(PIK3C2G):c.3816A>G (p.Glu1272=) rs387907450
NM_003040.4(SLC4A2):c.2220G>T (p.Val740=) rs387907528
NM_003040.4(SLC4A2):c.2242G>T (p.Ala748Ser) rs387907519
NM_003040.4(SLC4A2):c.237C>T (p.His79=) rs387907523
NM_003040.4(SLC4A2):c.3140C>T (p.Ala1047Val) rs387907521
NM_003040.4(SLC4A2):c.3342C>T (p.Pro1114=) rs387907520
NM_003040.4(SLC4A2):c.3358G>A (p.Gly1120Arg) rs387907526
NM_003040.4(SLC4A2):c.3474C>T (p.Val1158=) rs387907522
NM_003040.4(SLC4A2):c.3550G>A (p.Ala1184Thr) rs387907518
NM_003040.4(SLC4A2):c.53C>T (p.Pro18Leu) rs387907524
NM_003040.4(SLC4A2):c.61G>A (p.Glu21Lys) rs387907525
NM_003052.5(SLC34A1):c.1432T>C (p.Phe478Leu) rs387907506
NM_003052.5(SLC34A1):c.1707G>T (p.Leu569=) rs387907507
NM_003052.5(SLC34A1):c.1739C>A (p.Pro580His) rs387907504
NM_003052.5(SLC34A1):c.660C>G (p.Ala220=) rs387907505
NM_003361.4(UMOD):c.933C>T (p.Gly311=) rs387907552
NM_003984.4(SLC13A2):c.1326G>A (p.Glu442=) rs387907475
NM_004070.4(CLCNKA):c.1327G>A (p.Ala443Thr) rs387907409
NM_004070.4(CLCNKA):c.753G>C (p.Arg251=) rs387907406
NM_004252.5(NHERF1):c.1030C>G (p.Pro344Ala) rs387907535
NM_004252.5(NHERF1):c.708C>G (p.Asp236Glu) rs387907536
NM_004252.5(NHERF1):c.958A>T (p.Ile320Phe) rs387907537
NM_004752.4(GCM2):c.1168T>C (p.Ser390Pro) rs387907434
NM_004752.4(GCM2):c.1277A>C (p.Tyr426Ser) rs387907433
NM_004752.4(GCM2):c.303G>T (p.Leu101=) rs387907432
NM_004752.4(GCM2):c.665A>T (p.Glu222Val) rs387907429
NM_004752.4(GCM2):c.782A>T (p.Tyr261Phe) rs387907430
NM_004752.4(GCM2):c.831G>T (p.Leu277Phe) rs369540974
NM_004752.4(GCM2):c.833C>T (p.Ala278Val) rs387907426
NM_004752.4(GCM2):c.852T>C (p.Asn284=) rs387907428
NM_004752.4(GCM2):c.906A>T (p.Thr302=) rs387907427
NM_004795.4(KL):c.2505C>G (p.Asp835Glu) rs387907442
NM_004795.4(KL):c.2683A>G (p.Ile895Val) rs387907443
NM_004795.4(KL):c.3029G>A (p.Ser1010Asn) rs387907446
NM_005070.4(SLC4A3):c.146A>G (p.Asp49Gly) rs387907529
NM_005070.4(SLC4A3):c.371C>T (p.Pro124Leu) rs387907531
NM_005070.4(SLC4A3):c.664C>A (p.Pro222Thr) rs387907530
NM_005070.4(SLC4A3):c.681C>T (p.Ala227=) rs387907532
NM_005984.5(SLC25A1):c.286C>T (p.Pro96Ser) rs387907476
NM_005984.5(SLC25A1):c.615G>A (p.Leu205=) rs387907478
NM_005984.5(SLC25A1):c.697G>A (p.Ala233Thr) rs200222886
NM_006984.5(CLDN10):c.318C>T (p.Val106=) rs374567220
NM_018646.6(TRPV6):c.1558A>C (p.Ile520Leu) rs387907546
NM_018646.6(TRPV6):c.1904C>A (p.Ala635Asp) rs387907548
NM_019841.7(TRPV5):c.1968G>A (p.Lys656=) rs387907541
NM_020384.4(CLDN2):c.193G>C (p.Asp65His) rs387907423
NM_020384.4(CLDN2):c.522C>T (p.Ser174=) rs387907422
NM_022042.4(SLC26A1):c.1406C>T (p.Ala469Val) rs387907480
NM_022042.4(SLC26A1):c.1459G>A (p.Glu487Lys) rs387907488
NM_022042.4(SLC26A1):c.1509C>T (p.Gly503=) rs387907479
NM_022042.4(SLC26A1):c.1633C>T (p.Pro545Ser) rs387907485
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr) rs387907481
NM_022042.4(SLC26A1):c.226G>A (p.Gly76Arg) rs387907482
NM_022911.3(SLC26A6):c.1541C>T (p.Ser514Phe) rs387907499
NM_022911.3(SLC26A6):c.1618G>C (p.Val540Leu) rs387907494
NM_022911.3(SLC26A6):c.1653T>A (p.Phe551Leu) rs387907502
NM_022911.3(SLC26A6):c.1902C>T (p.Ser634=) rs387907493
NM_022911.3(SLC26A6):c.2081A>T (p.His694Leu) rs387907500
NM_022911.3(SLC26A6):c.365G>A (p.Gly122Asp) rs387907497
NM_022911.3(SLC26A6):c.682G>C (p.Val228Leu) rs387907498
NM_022911.3(SLC26A6):c.709C>A (p.Leu237Ile) rs387907496
NM_032387.5(WNK4):c.1892G>A (p.Gly631Asp) rs387907557
NM_032387.5(WNK4):c.2577C>T (p.Thr859=) rs387907558
NM_032387.5(WNK4):c.2718T>C (p.Phe906=) rs387907564
NM_032387.5(WNK4):c.546T>A (p.Arg182=) rs387907563
NM_032387.5(WNK4):c.973G>A (p.Ala325Thr) rs387907559
NM_148960.3(CLDN19):c.128C>T (p.Ala43Val) rs387907421
NM_148960.3(CLDN19):c.301G>A (p.Gly101Ser) rs387907419
NM_153766.3(KCNJ1):c.*5G>A rs387907437
NM_153766.3(KCNJ1):c.1027G>A (p.Glu343Lys) rs387907436
NM_153766.3(KCNJ1):c.1028A>C (p.Glu343Ala) rs387907435
NM_153766.3(KCNJ1):c.719A>C (p.Asn240Thr) rs387907440
NM_153766.3(KCNJ1):c.98A>C (p.Glu33Ala) rs387907438
NM_199328.3(CLDN8):c.162C>A (p.Cys54Ter) rs387907424

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