ClinVar Miner

List of variants in gene AP4B1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001253852.3(AP4B1):c.1302+204G>C rs1217402 0.75340
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_001253852.3(AP4B1):c.113+193C>G rs6661817 0.32154
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.15901
NM_001253852.3(AP4B1):c.618-321G>T rs41283516 0.03374
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_001253852.3(AP4B1):c.339-87A>C rs12079716 0.01485
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_001253852.3(AP4B1):c.*301T>C rs12076115 0.01298
NM_001253852.3(AP4B1):c.1303-206T>C rs185479399 0.00878
NM_001253852.3(AP4B1):c.1792+85A>G rs111830978 0.00771
NM_001253852.3(AP4B1):c.1114+98T>C rs78665702 0.00755
NM_001253852.3(AP4B1):c.1303-160A>G rs6695260 0.00749
NM_001253852.3(AP4B1):c.1793-9C>G rs17031980 0.00589
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00495
NM_001253852.3(AP4B1):c.1199-222A>G rs114563260 0.00447
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00358
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00135
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu) rs183034705 0.00051
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=) rs34778731 0.00051
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr) rs149335605 0.00046
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00038
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr) rs200590674 0.00028
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala) rs151293980 0.00008
NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser) rs201876159 0.00008
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp) rs745939325 0.00005
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter) rs746462207 0.00002
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter) rs138335735 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter) rs755756363 0.00001
NM_001253852.3(AP4B1):c.1331G>T (p.Gly444Val) rs1345004647 0.00001
NM_001253852.3(AP4B1):c.770A>G (p.Lys257Arg) rs765054828 0.00001
NM_001253852.3(AP4B1):c.1114+162dup rs3838300
NM_001253852.3(AP4B1):c.1115-103del rs369298592
NM_001253852.3(AP4B1):c.1115-116dup rs369298592
NM_001253852.3(AP4B1):c.1118G>A (p.Gly373Asp) rs370213016
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1302+234TTTTG[2] rs376491508
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001253852.3(AP4B1):c.1336C>T (p.His446Tyr) rs772097818
NM_001253852.3(AP4B1):c.1511-6C>G rs759015795
NM_001253852.3(AP4B1):c.1512G>A (p.Glu504=) rs1553257180
NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly) rs1168331342
NM_001253852.3(AP4B1):c.230C>T (p.Pro77Leu) rs1057524841
NM_001253852.3(AP4B1):c.239C>T (p.Pro80Leu) rs772917275
NM_001253852.3(AP4B1):c.319C>G (p.Arg107Gly) rs74361335
NM_001253852.3(AP4B1):c.383G>A (p.Gly128Asp)
NM_001253852.3(AP4B1):c.443_444delinsC (p.His148fs) rs2526631120
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile) rs1553259191
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001253852.3(AP4B1):c.647C>G (p.Ala216Gly) rs752781534
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769

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