ClinVar Miner

List of variants in gene BDP1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_018429.3(BDP1):c.213-244G>C rs6414938 0.97435
NM_018429.3(BDP1):c.6413-188G>C rs7380280 0.80677
NM_018429.3(BDP1):c.6037A>C (p.Ile2013Leu) rs6453014 0.80668
NM_018429.3(BDP1):c.4039G>A (p.Val1347Met) rs6886336 0.80644
NM_018429.3(BDP1):c.6996-237C>T rs6877773 0.80632
NM_018429.3(BDP1):c.7240+270A>G rs6872671 0.78664
NM_018429.3(BDP1):c.3792C>G (p.Ile1264Met) rs715747 0.77391
NM_018429.3(BDP1):c.786-122G>A rs6452722 0.77373
NM_018429.3(BDP1):c.786-246G>A rs6877289 0.77360
NM_018429.3(BDP1):c.114T>G (p.Asp38Glu) rs3748043 0.76698
NM_018429.3(BDP1):c.5387+101A>G rs156753 0.47989
NM_018429.3(BDP1):c.6563+99A>G rs279290 0.46320
NM_018429.3(BDP1):c.3538G>A (p.Gly1180Ser) rs715748 0.44915
NM_018429.3(BDP1):c.2049-285G>A rs439698 0.44794
NM_018429.3(BDP1):c.3730T>A (p.Phe1244Ile) rs1961760 0.44739
NM_018429.3(BDP1):c.5772+270dup rs35069627 0.44701
NM_018429.3(BDP1):c.2049-144C>T rs560394 0.44687
NM_018429.3(BDP1):c.5893-36G>A rs276590 0.44671
NM_018429.3(BDP1):c.5893-166A>C rs276591 0.44661
NM_018429.3(BDP1):c.5772+217_5772+218insAAT rs34385386 0.44588
NM_018429.3(BDP1):c.7240+310T>A rs458009 0.44337
NM_018429.3(BDP1):c.6996-260T>C rs466930 0.44310
NM_018429.3(BDP1):c.7074G>T (p.Pro2358=) rs469039 0.44242
NM_018429.3(BDP1):c.7744-88T>C rs277944 0.44233
NM_018429.3(BDP1):c.2332G>A (p.Val778Met) rs3761967 0.44225
NM_018429.3(BDP1):c.7201-102G>A rs467620 0.41914
NM_018429.3(BDP1):c.4060-77G>A rs418738 0.41911
NM_018429.3(BDP1):c.786-229T>C rs7443763 0.41889
NM_018429.3(BDP1):c.6462C>T (p.Leu2154=) rs182190 0.41887
NM_018429.3(BDP1):c.6412+300C>T rs279291 0.41853
NM_018429.3(BDP1):c.4405A>G (p.Lys1469Glu) rs1698063 0.41809
NM_018429.3(BDP1):c.2373-112T>C rs384732 0.40159
NM_018429.3(BDP1):c.4650-67A>G rs279322 0.37986
NM_018429.3(BDP1):c.6564-259C>T rs279289 0.30363
NM_018429.3(BDP1):c.2269C>T (p.Arg757Cys) rs3761966 0.29827
NM_018429.3(BDP1):c.5929+21T>C rs276589 0.29796
NM_018429.3(BDP1):c.7590C>T (p.Arg2530=) rs277941 0.29794
NM_018429.3(BDP1):c.785+143A>G rs10079014 0.29501
NM_018429.3(BDP1):c.1641-67T>A rs2059196 0.29466
NM_018429.3(BDP1):c.2241+273C>G rs138181661 0.07208
NM_018429.3(BDP1):c.5773-160G>A rs277970 0.05747
NM_018429.3(BDP1):c.2164A>G (p.Lys722Glu) rs36009281 0.05613
NM_018429.3(BDP1):c.2373-15C>T rs66954493 0.04829
NM_018429.3(BDP1):c.7738A>G (p.Thr2580Ala) rs115185087 0.04373
NM_018429.3(BDP1):c.6962A>G (p.Lys2321Arg) rs59354595 0.03876
NM_018429.3(BDP1):c.7497-238A>G rs141256968 0.03871
NM_018429.3(BDP1):c.5026C>G (p.Gln1676Glu) rs12187098 0.03039
NM_018429.3(BDP1):c.2048+19G>C rs201475977 0.02851
NM_018429.3(BDP1):c.1493-96T>G rs116620471 0.02820
NM_018429.3(BDP1):c.5916C>A (p.Ile1972=) rs35131626 0.02340
NM_018429.3(BDP1):c.2241+288A>T rs59861087 0.02335
NM_018429.3(BDP1):c.1015-58A>T rs11953420 0.02250
NM_018429.3(BDP1):c.1641-218G>A rs56661846 0.01909
NM_018429.3(BDP1):c.600-128C>T rs76232631 0.01686
NM_018429.3(BDP1):c.7200+161T>C rs112181566 0.01667
NM_018429.3(BDP1):c.4992-216A>G rs116410868 0.01665
NM_018429.3(BDP1):c.7497-179G>C rs147566053 0.01665
NM_018429.3(BDP1):c.6809-184_6809-183insG rs140574557 0.01660
NM_018429.3(BDP1):c.7200+250A>G rs59596395 0.01660
NM_018429.3(BDP1):c.1213+224C>G rs115447335 0.01613
NM_018429.3(BDP1):c.5929+187G>A rs75933082 0.01591
NM_018429.3(BDP1):c.374C>T (p.Ala125Val) rs9687593 0.01372
NM_018429.3(BDP1):c.6564-135A>G rs72759443 0.01213
NM_018429.3(BDP1):c.1640+66del rs111963925 0.01195
NM_018429.3(BDP1):c.4861-273A>G rs114539888 0.01077
NM_018429.3(BDP1):c.5772+62T>C rs114503830 0.01071
NM_018429.3(BDP1):c.5784T>G (p.Thr1928=) rs34768748 0.01070
NM_018429.3(BDP1):c.7240+306C>T rs115651009 0.01069
NM_018429.3(BDP1):c.6808+123G>A rs6869187 0.01016
NM_018429.3(BDP1):c.4650-80A>G rs79245173 0.00829
NM_018429.3(BDP1):c.4650-76A>G rs77849317 0.00828
NM_018429.3(BDP1):c.1512G>T (p.Arg504Ser) rs7709578 0.00814
NM_018429.3(BDP1):c.7497-193A>G rs146926599 0.00747
NM_018429.3(BDP1):c.-80A>T rs142427839 0.00733
NM_018429.3(BDP1):c.5893-237A>T rs16877791 0.00727
NM_018429.3(BDP1):c.6564-214dup rs141650312 0.00657
NM_018429.3(BDP1):c.4272G>A (p.Lys1424=) rs139646543 0.00655
NM_018429.3(BDP1):c.1492+314A>G rs115655450 0.00594
NM_018429.3(BDP1):c.4636G>T (p.Val1546Phe) rs34719355 0.00593
NM_018429.3(BDP1):c.6754A>C (p.Thr2252Pro) rs144136438 0.00592
NM_018429.3(BDP1):c.6601A>G (p.Met2201Val) rs147692978 0.00590
NM_018429.3(BDP1):c.786-270T>C rs142931425 0.00588
NM_018429.3(BDP1):c.786-279C>G rs6893321 0.00578
NM_018429.3(BDP1):c.3065G>A (p.Arg1022Lys) rs61734265 0.00556
NM_018429.3(BDP1):c.1640+33A>C rs111983784 0.00543
NM_018429.3(BDP1):c.786-297_786-296del rs559118575 0.00542
NM_018429.3(BDP1):c.7240+294G>A rs113542897 0.00540
NM_018429.3(BDP1):c.1069+24A>G rs112266388 0.00527
NM_018429.3(BDP1):c.7497-12T>C rs140858834 0.00504
NM_018429.3(BDP1):c.5889G>A (p.Pro1963=) rs35126870 0.00500
NM_018429.3(BDP1):c.4060-184T>G rs188845750 0.00492
NM_018429.3(BDP1):c.7496+309T>C rs139393757 0.00456
NM_018429.3(BDP1):c.1492+142G>A rs144977849 0.00440
NM_018429.3(BDP1):c.6745-11T>C rs76985196 0.00437
NM_018429.3(BDP1):c.5031G>C (p.Met1677Ile) rs34327181 0.00381
NM_018429.3(BDP1):c.7200+271A>G rs146835117 0.00381
NM_018429.3(BDP1):c.7496+80T>C rs112200932 0.00381
NM_018429.3(BDP1):c.7240+22A>C rs191407193 0.00380
NM_018429.3(BDP1):c.1014+123A>G rs114631548 0.00372
NM_018429.3(BDP1):c.1957-34dup rs371047694 0.00371
NM_018429.3(BDP1):c.7200+293A>G rs554563241 0.00368
NM_018429.3(BDP1):c.823G>A (p.Val275Ile) rs150763040 0.00362
NM_018429.3(BDP1):c.1957-133C>T rs142878297 0.00361
NM_018429.3(BDP1):c.2176A>T (p.Ile726Leu) rs34588160 0.00344
NM_018429.3(BDP1):c.1014+113T>C rs189651939 0.00300
NM_018429.3(BDP1):c.6022+159A>G rs147657019 0.00300
NM_018429.3(BDP1):c.4059+142A>G rs147549439 0.00299
NM_018429.3(BDP1):c.7743+298C>G rs7704978 0.00298
NM_018429.3(BDP1):c.4247+52G>A rs148039997 0.00295
NM_018429.3(BDP1):c.5548C>T (p.Arg1850Trp) rs34727932 0.00277
NM_018429.3(BDP1):c.3212G>C (p.Ser1071Thr) rs75859503 0.00273
NM_018429.3(BDP1):c.4247+30T>C rs183792617 0.00272
NM_018429.3(BDP1):c.659+47A>C rs187548489 0.00272
NM_018429.3(BDP1):c.4471-76T>C rs142096493 0.00266
NM_018429.3(BDP1):c.1799+30A>G rs114258677 0.00264
NM_018429.3(BDP1):c.638C>T (p.Ser213Leu) rs182873139 0.00254
NM_018429.3(BDP1):c.5929+48T>A rs201983414 0.00235
NM_018429.3(BDP1):c.4578A>G (p.Ser1526=) rs199669834 0.00163
NM_018429.3(BDP1):c.5773-150G>T rs577659404 0.00130
NM_018429.3(BDP1):c.4966G>A (p.Val1656Ile) rs35736161 0.00128
NM_018429.3(BDP1):c.2747C>G (p.Pro916Arg) rs201059861 0.00124
NM_018429.3(BDP1):c.2788G>A (p.Glu930Lys) rs200304584 0.00116
NM_018429.3(BDP1):c.6228A>G (p.Val2076=) rs368295198 0.00116
NM_018429.3(BDP1):c.2148T>A (p.Gly716=) rs550805438 0.00111
NM_018429.3(BDP1):c.599+8A>G rs200824019 0.00095
NM_018429.3(BDP1):c.6144T>A (p.Thr2048=) rs191238264 0.00078
NM_018429.3(BDP1):c.7036G>C (p.Gly2346Arg) rs200098601 0.00075
NM_018429.3(BDP1):c.1078C>T (p.Arg360Cys) rs200036481 0.00074
NM_018429.3(BDP1):c.7014T>G (p.Thr2338=) rs184748464 0.00073
NM_018429.3(BDP1):c.920-27A>G rs199642279 0.00071
NM_018429.3(BDP1):c.6370A>G (p.Ser2124Gly) rs200080464 0.00066
NM_018429.3(BDP1):c.1957-4A>G rs151028489 0.00059
NM_018429.3(BDP1):c.5929+11T>C rs201357054 0.00058
NM_018429.3(BDP1):c.3688A>G (p.Ile1230Val) rs199944691 0.00057
NM_018429.3(BDP1):c.4060-10G>A rs376317190 0.00055
NM_018429.3(BDP1):c.7258C>G (p.Gln2420Glu) rs187778306 0.00055
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_018429.3(BDP1):c.2190A>G (p.Glu730=) rs200662172 0.00051
NM_018429.3(BDP1):c.1492+21A>G rs370483844 0.00049
NM_018429.3(BDP1):c.1746T>C (p.Asn582=) rs201955867 0.00044
NM_018429.3(BDP1):c.6610G>T (p.Val2204Phe) rs112823079 0.00044
NM_018429.3(BDP1):c.2510T>G (p.Ile837Ser) rs191127702 0.00041
NM_018429.3(BDP1):c.2535A>G (p.Ala845=) rs202085592 0.00039
NM_018429.3(BDP1):c.2373-23T>C rs528250574 0.00037
NM_018429.3(BDP1):c.2030A>G (p.Glu677Gly) rs199719765 0.00033
NM_018429.3(BDP1):c.3654G>A (p.Lys1218=) rs200107038 0.00032
NM_018429.3(BDP1):c.2550T>C (p.Thr850=) rs553166194 0.00027
NM_018429.3(BDP1):c.3602A>C (p.Glu1201Ala) rs199840190 0.00027
NM_018429.3(BDP1):c.7026A>G (p.Gln2342=) rs189468594 0.00026
NM_018429.3(BDP1):c.5845G>A (p.Val1949Met) rs199778972 0.00025
NM_018429.3(BDP1):c.7743+261T>C rs60121462 0.00024
NM_018429.3(BDP1):c.2373-22G>T rs546481309 0.00023
NM_018429.3(BDP1):c.6808+6A>G rs192651501 0.00021
NM_018429.3(BDP1):c.77A>G (p.Asn26Ser) rs3748042 0.00021
NM_018429.3(BDP1):c.1203A>G (p.Lys401=) rs766789518 0.00019
NM_018429.3(BDP1):c.4737G>A (p.Pro1579=) rs747494797 0.00019
NM_018429.3(BDP1):c.5053G>C (p.Ala1685Pro) rs200843292 0.00019
NM_018429.3(BDP1):c.2745G>A (p.Thr915=) rs545273365 0.00018
NM_018429.3(BDP1):c.165A>G (p.Thr55=) rs376332460 0.00017
NM_018429.3(BDP1):c.2268G>A (p.Ser756=) rs201697508 0.00016
NM_018429.3(BDP1):c.3797A>C (p.Glu1266Ala) rs377548231 0.00016
NM_018429.3(BDP1):c.282A>T (p.Arg94Ser) rs150188040 0.00015
NM_018429.3(BDP1):c.3186G>A (p.Thr1062=) rs746243999 0.00015
NM_018429.3(BDP1):c.7189T>G (p.Tyr2397Asp) rs141398694 0.00015
NM_018429.3(BDP1):c.4935A>G (p.Gln1645=) rs554659765 0.00014
NM_018429.3(BDP1):c.5531G>A (p.Arg1844His) rs180758488 0.00014
NM_018429.3(BDP1):c.193G>A (p.Glu65Lys) rs560053520 0.00012
NM_018429.3(BDP1):c.5193+30T>G rs146515669 0.00011
NM_018429.3(BDP1):c.6342C>T (p.Asn2114=) rs368194611 0.00011
NM_018429.3(BDP1):c.2210A>G (p.Lys737Arg) rs746227158 0.00010
NM_018429.3(BDP1):c.2241+32G>T rs141145539 0.00010
NM_018429.3(BDP1):c.5851A>G (p.Thr1951Ala) rs200701950 0.00010
NM_018429.3(BDP1):c.4899G>A (p.Ser1633=) rs199695519 0.00009
NM_018429.3(BDP1):c.5664A>G (p.Glu1888=) rs779446420 0.00009
NM_018429.3(BDP1):c.7646A>G (p.Asn2549Ser) rs369091269 0.00009
NM_018429.3(BDP1):c.5073A>G (p.Arg1691=) rs763683319 0.00008
NM_018429.3(BDP1):c.6744+52A>T rs537100836 0.00008
NM_018429.3(BDP1):c.4238T>C (p.Ile1413Thr) rs200925109 0.00005
NM_018429.3(BDP1):c.7575C>T (p.Val2525=) rs535538241 0.00005
NM_018429.3(BDP1):c.*20C>T rs771422191 0.00004
NM_018429.3(BDP1):c.3839C>G (p.Ala1280Gly) rs555865529 0.00004
NM_018429.3(BDP1):c.390C>T (p.Ala130=) rs774555702 0.00004
NM_018429.3(BDP1):c.4902C>T (p.Ser1634=) rs199691118 0.00004
NM_018429.3(BDP1):c.1689C>T (p.Ser563=) rs779672121 0.00001
NM_018429.3(BDP1):c.5893-14T>G rs376884329 0.00001
NM_018429.3(BDP1):c.6960C>T (p.Val2320=) rs369151682 0.00001
NC_000005.10:g.71455620C>T rs73772601
NM_018429.3(BDP1):c.1014+255C>T rs111477245
NM_018429.3(BDP1):c.1070-94_1070-91del rs147177140
NM_018429.3(BDP1):c.1245T>C (p.Asn415=) rs1554114011
NM_018429.3(BDP1):c.1294C>A (p.Gln432Lys) rs201849167
NM_018429.3(BDP1):c.1492+179del rs199901479
NM_018429.3(BDP1):c.1493-84_1493-83insCA rs10641531
NM_018429.3(BDP1):c.1641-3dup rs201462177
NM_018429.3(BDP1):c.1956+60G>A rs62374362
NM_018429.3(BDP1):c.2048+38_2048+40del rs11441119
NM_018429.3(BDP1):c.2048+39_2048+40del rs11441119
NM_018429.3(BDP1):c.2048+39_2048+40dup rs11441119
NM_018429.3(BDP1):c.2048+40del rs11441119
NM_018429.3(BDP1):c.2048+40dup rs11441119
NM_018429.3(BDP1):c.2049-178G>A rs561139
NM_018429.3(BDP1):c.2241+273C>A rs138181661
NM_018429.3(BDP1):c.2241+291del rs1190511316
NM_018429.3(BDP1):c.2241+291dup rs1190511316
NM_018429.3(BDP1):c.2242-169A>T rs3761965
NM_018429.3(BDP1):c.2270G>A (p.Arg757His) rs201610494
NM_018429.3(BDP1):c.2373-15del rs36098798
NM_018429.3(BDP1):c.2373-5del rs60403720
NM_018429.3(BDP1):c.3043A>C (p.Thr1015Pro) rs187541686
NM_018429.3(BDP1):c.3364G>A (p.Gly1122Arg) rs73775118
NM_018429.3(BDP1):c.3364G>C (p.Gly1122Arg) rs73775118
NM_018429.3(BDP1):c.3984C>A (p.Thr1328=) rs371188829
NM_018429.3(BDP1):c.4059+44del rs70992972
NM_018429.3(BDP1):c.4059+95C>T rs421128
NM_018429.3(BDP1):c.4248-97del rs34252624
NM_018429.3(BDP1):c.4248-97dup rs34252624
NM_018429.3(BDP1):c.4248-98_4248-97del rs34252624
NM_018429.3(BDP1):c.4248-99_4248-97del rs34252624
NM_018429.3(BDP1):c.4470+19G>A rs369333012
NM_018429.3(BDP1):c.4470+50del rs34587827
NM_018429.3(BDP1):c.4470+50dup rs34587827
NM_018429.3(BDP1):c.5006C>A (p.Pro1669Gln) rs34529158
NM_018429.3(BDP1):c.5193+28del rs34331239
NM_018429.3(BDP1):c.5193+28dup rs34331239
NM_018429.3(BDP1):c.5772+282TTTTTTA[2] rs1469829706
NM_018429.3(BDP1):c.5772+330del rs35940745
NM_018429.3(BDP1):c.5892+164TTTG[2] rs2307799
NM_018429.3(BDP1):c.5949C>T (p.Thr1983=) rs754557826
NM_018429.3(BDP1):c.599+49_599+53dup rs370261571
NM_018429.3(BDP1):c.599+51_599+53del rs370261571
NM_018429.3(BDP1):c.599+51_599+53dup rs370261571
NM_018429.3(BDP1):c.599+52_599+53del rs370261571
NM_018429.3(BDP1):c.599+52_599+53dup rs370261571
NM_018429.3(BDP1):c.599+53del rs370261571
NM_018429.3(BDP1):c.599+53dup rs370261571
NM_018429.3(BDP1):c.600-212del rs5868597
NM_018429.3(BDP1):c.600-213_600-212del rs5868597
NM_018429.3(BDP1):c.6022+255_6022+271del rs373867959
NM_018429.3(BDP1):c.6023-320_6023-317dup rs10696047
NM_018429.3(BDP1):c.6023-7del rs370269048
NM_018429.3(BDP1):c.6023-7dup rs370269048
NM_018429.3(BDP1):c.6564-133_6564-132insAAAGAA rs375850328
NM_018429.3(BDP1):c.6564-133_6564-132insAAGAA rs375850328
NM_018429.3(BDP1):c.6564-133_6564-132insAGAA rs375850328
NM_018429.3(BDP1):c.6564-134_6564-132dup rs1554125849
NM_018429.3(BDP1):c.6996-161G>A rs468158
NM_018429.3(BDP1):c.6996-186dup rs111496813
NM_018429.3(BDP1):c.6996-281GGGAGA[2] rs141762932
NM_018429.3(BDP1):c.6996-300G>C rs424791
NM_018429.3(BDP1):c.6996-54del rs528058386
NM_018429.3(BDP1):c.7354_7356del (p.Pro2452del) rs768738373
NM_018429.3(BDP1):c.7496+314A>C rs277939
NM_018429.3(BDP1):c.7664A>G (p.Asn2555Ser) rs17276250
NM_018429.3(BDP1):c.7848C>A (p.Ile2616=) rs755935161
NM_018429.3(BDP1):c.786-292C>G rs6452721
NM_018429.3(BDP1):c.786-93A>G rs7442961
NM_018429.3(BDP1):c.919+147C>T rs13185743
NM_018429.3(BDP1):c.920-265C>G rs151292542

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