ClinVar Miner

List of variants in gene ATP8B1 reported as benign by GeneDx

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Gene type:
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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.2210-128T>C rs317846 0.99931
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99433
NM_001374385.1(ATP8B1):c.280-225T>C rs450521 0.99337
NM_001374385.1(ATP8B1):c.2209+166T>C rs317844 0.99324
NM_001374385.1(ATP8B1):c.555-167A>G rs319437 0.99251
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99162
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99160
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99159
NM_001374385.1(ATP8B1):c.181+255A>G rs12606419 0.98822
NM_001374385.1(ATP8B1):c.181+253A>G rs12606420 0.98736
NM_001374385.1(ATP8B1):c.-25-153C>T rs2459773 0.98355
NM_001374385.1(ATP8B1):c.181+103A>G rs651867 0.98197
NM_001374385.1(ATP8B1):c.-25-267T>C rs71365345 0.97441
NM_001374385.1(ATP8B1):c.2098-188G>C rs317843 0.81553
NM_001374385.1(ATP8B1):c.1030-183T>C rs160993 0.77494
NM_001374385.1(ATP8B1):c.-25-204A>T rs66955564 0.57497
NM_001374385.1(ATP8B1):c.2419-214A>G rs317851 0.54352
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.43070
NM_001374385.1(ATP8B1):c.2210-178C>T rs160992 0.40708
NM_001374385.1(ATP8B1):c.555-263C>T rs319436 0.40130
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_001374385.1(ATP8B1):c.1429+236G>T rs28588686 0.38797
NM_001374385.1(ATP8B1):c.-106C>T rs1848701 0.38084
NM_001374385.1(ATP8B1):c.554+122C>T rs4940989 0.37120
NM_001374385.1(ATP8B1):c.2419-184G>A rs62094219 0.36066
NM_001374385.1(ATP8B1):c.2210-114T>C rs9964678 0.33186
NM_001374385.1(ATP8B1):c.2286-223A>G rs62094223 0.32977
NM_001374385.1(ATP8B1):c.2098-309T>C rs12717120 0.32543
NM_001374385.1(ATP8B1):c.181+257A>G rs183306488 0.32500
NM_001374385.1(ATP8B1):c.2285+218C>A rs4308033 0.32477
NM_001374385.1(ATP8B1):c.2209+249T>C rs317845 0.30526
NM_001374385.1(ATP8B1):c.1932+277G>A rs317839 0.29798
NM_001374385.1(ATP8B1):c.2931+59T>A rs17753176 0.21176
NM_001374385.1(ATP8B1):c.394-202C>T rs17686300 0.21046
NM_001374385.1(ATP8B1):c.3400+305A>C rs35665103 0.20607
NM_001374385.1(ATP8B1):c.2285+29C>T rs4306606 0.20469
NM_001374385.1(ATP8B1):c.3401-108C>T rs11152025 0.20424
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_001374385.1(ATP8B1):c.1820-54T>A rs35718397 0.19553
NM_001374385.1(ATP8B1):c.1430-42A>G rs11659313 0.19428
NM_001374385.1(ATP8B1):c.3262-68T>G rs7226404 0.17001
NM_001374385.1(ATP8B1):c.-289C>G rs2437035 0.16503
NM_001374385.1(ATP8B1):c.2209+111T>G rs28473343 0.16360
NM_001374385.1(ATP8B1):c.2209+295C>A rs28424873 0.15559
NM_001374385.1(ATP8B1):c.2098-175C>T rs12717119 0.12350
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12165
NM_001374385.1(ATP8B1):c.2419-236A>G rs62094221 0.11618
NM_001374385.1(ATP8B1):c.1030-145G>A rs6566893 0.09966
NM_001374385.1(ATP8B1):c.1631-255G>A rs11152027 0.09407
NM_001374385.1(ATP8B1):c.182-72G>A rs55728527 0.08350
NM_001374385.1(ATP8B1):c.3262-40C>T rs17759233 0.08336
NM_001374385.1(ATP8B1):c.1932+240T>C rs59090695 0.08330
NM_001374385.1(ATP8B1):c.3015+148T>C rs72942282 0.08311
NM_001374385.1(ATP8B1):c.2932-283C>T rs145780137 0.08199
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.07804
NM_001374385.1(ATP8B1):c.3401-167C>T rs8097764 0.07784
NM_001374385.1(ATP8B1):c.*283G>A rs11152024 0.07759
NM_001374385.1(ATP8B1):c.1030-85T>C rs11873034 0.07507
NM_001374385.1(ATP8B1):c.3261+156A>G rs11875799 0.07324
NM_001374385.1(ATP8B1):c.2418+303G>A rs79277091 0.06253
NM_001374385.1(ATP8B1):c.2097+89T>C rs58094309 0.06149
NM_001374385.1(ATP8B1):c.-25-297C>T rs369485322 0.05328
NM_001374385.1(ATP8B1):c.1221-83C>T rs17759405 0.03804
NM_001374385.1(ATP8B1):c.1430-218C>A rs17063968 0.03515
NM_001374385.1(ATP8B1):c.393+258G>C rs57382708 0.03153
NM_001374385.1(ATP8B1):c.2098-32C>T rs202206427 0.02731
NM_001374385.1(ATP8B1):c.1429+49G>A rs111837936 0.02276
NM_001374385.1(ATP8B1):c.2419-185C>T rs114530140 0.02129
NM_001374385.1(ATP8B1):c.1221-145C>T rs112925436 0.02103
NM_001374385.1(ATP8B1):c.1429+114G>A rs17063971 0.01951
NM_001374385.1(ATP8B1):c.3016-9C>A rs34729241 0.01790
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_001374385.1(ATP8B1):c.*11C>T rs34255016 0.00936
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=) rs35757087 0.00529
NM_001374385.1(ATP8B1):c.279+129T>C rs73443026 0.00505
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014 0.00425
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00214
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00204
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00200
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00197
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_001374385.1(ATP8B1):c.-25-301TA[4] rs368854552
NM_001374385.1(ATP8B1):c.-25-302_-25-301insACATATATACATAT rs764398507
NM_001374385.1(ATP8B1):c.1220+122C>T rs317809
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129
NM_001374385.1(ATP8B1):c.1474-176del rs1014520345
NM_001374385.1(ATP8B1):c.181+253AT[12] rs878964423
NM_001374385.1(ATP8B1):c.181+253AT[13] rs878964423
NM_001374385.1(ATP8B1):c.181+253AT[14] rs878964423
NM_001374385.1(ATP8B1):c.181+253AT[15] rs878964423
NM_001374385.1(ATP8B1):c.1819+247G>T rs56119246
NM_001374385.1(ATP8B1):c.1933-160C>T rs55682341
NM_001374385.1(ATP8B1):c.1933-173del rs11326847
NM_001374385.1(ATP8B1):c.1933-174_1933-173del rs11326847
NM_001374385.1(ATP8B1):c.2097+297C>G rs75165055
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-30_2098-23dup rs34422185
NM_001374385.1(ATP8B1):c.2098-31C>T rs752477466
NM_001374385.1(ATP8B1):c.2210-56TAAAA[4] rs45454792
NM_001374385.1(ATP8B1):c.2286-91del rs34396065
NM_001374385.1(ATP8B1):c.2418+305G>A rs76258995
NM_001374385.1(ATP8B1):c.2419-164_2419-159del rs140287914
NM_001374385.1(ATP8B1):c.2419-213_2419-212insTGTGTG rs1360057007
NM_001374385.1(ATP8B1):c.2419-217_2419-216insTGTA rs796452165
NM_001374385.1(ATP8B1):c.2419-219_2419-218insTA rs200586970
NM_001374385.1(ATP8B1):c.2419-234GT[12] rs368698002
NM_001374385.1(ATP8B1):c.2419-234GT[14] rs368698002
NM_001374385.1(ATP8B1):c.2931+303G>A rs112028430
NM_001374385.1(ATP8B1):c.3400+235del rs66785255
NM_001374385.1(ATP8B1):c.3401-175C>T rs167603
NM_001374385.1(ATP8B1):c.3532-170C>T rs2851965
NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACAC rs61181992
NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACACAC rs61181992
NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACACACAC rs61181992
NM_001374385.1(ATP8B1):c.3532-171_3532-170insACACATACACACACAC rs61181992
NM_001374385.1(ATP8B1):c.3532-171_3532-170insAT rs145039161
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=) rs35953143

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