ClinVar Miner

List of variants in gene BDP1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_018429.3(BDP1):c.1015-58A>T rs11953420 0.02250
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.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.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.1492+314A>G rs115655450 0.00594
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.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.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.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.1957-133C>T rs142878297 0.00361
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.4471-76T>C rs142096493 0.00266
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.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.2535A>G (p.Ala845=) rs202085592 0.00039
NM_018429.3(BDP1):c.2030A>G (p.Glu677Gly) rs199719765 0.00033
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.6808+6A>G rs192651501 0.00021
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.3186G>A (p.Thr1062=) rs746243999 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.6342C>T (p.Asn2114=) rs368194611 0.00011
NM_018429.3(BDP1):c.2210A>G (p.Lys737Arg) rs746227158 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.390C>T (p.Ala130=) rs774555702 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.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.1956+60G>A rs62374362
NM_018429.3(BDP1):c.2048+39_2048+40dup rs11441119
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.2270G>A (p.Arg757His) rs201610494
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.4248-99_4248-97del rs34252624
NM_018429.3(BDP1):c.4470+19G>A rs369333012
NM_018429.3(BDP1):c.4470+50dup rs34587827
NM_018429.3(BDP1):c.5193+28del rs34331239
NM_018429.3(BDP1):c.5772+282TTTTTTA[2] rs1469829706
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.6564-133_6564-132insAAAGAA rs375850328
NM_018429.3(BDP1):c.6564-133_6564-132insAAGAA rs375850328
NM_018429.3(BDP1):c.6564-134_6564-132dup rs1554125849
NM_018429.3(BDP1):c.6996-186dup rs111496813
NM_018429.3(BDP1):c.6996-281GGGAGA[2] rs141762932
NM_018429.3(BDP1):c.7354_7356del (p.Pro2452del) rs768738373
NM_018429.3(BDP1):c.7848C>A (p.Ile2616=) rs755935161
NM_018429.3(BDP1):c.920-265C>G rs151292542

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