ClinVar Miner

List of variants in gene AP1B1 reported as uncertain significance by Ambry Genetics

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001127.4(AP1B1):c.2086G>A (p.Gly696Ser) rs145640648 0.00017
NM_001127.4(AP1B1):c.1918C>A (p.Pro640Thr) rs572161344 0.00011
NM_001127.4(AP1B1):c.1787G>A (p.Arg596His) rs776595684 0.00006
NM_001127.4(AP1B1):c.1054G>A (p.Ala352Thr) rs199663865 0.00005
NM_001127.4(AP1B1):c.700G>A (p.Asp234Asn) rs754647389 0.00004
NM_001127.4(AP1B1):c.2263G>T (p.Ala755Ser) rs537706062 0.00003
NM_001127.4(AP1B1):c.1537G>T (p.Asp513Tyr) rs771243553 0.00002
NM_001127.4(AP1B1):c.578G>A (p.Ser193Asn) rs1013785497 0.00002
NM_001127.4(AP1B1):c.920A>G (p.Asn307Ser) rs747391498 0.00002
NM_001127.4(AP1B1):c.1087A>G (p.Thr363Ala) rs756010735 0.00001
NM_001127.4(AP1B1):c.1135C>T (p.Arg379Cys) rs143474762 0.00001
NM_001127.4(AP1B1):c.2065G>C (p.Ala689Pro) rs935308292 0.00001
NM_001127.4(AP1B1):c.2117C>T (p.Thr706Ile) rs2517783079 0.00001
NM_001127.4(AP1B1):c.2600C>G (p.Pro867Arg) rs763612751 0.00001
NM_001127.4(AP1B1):c.2660A>G (p.Lys887Arg) rs1003185341 0.00001
NM_001127.4(AP1B1):c.2713G>C (p.Gly905Arg) rs764213357 0.00001
NM_001127.4(AP1B1):c.2779T>A (p.Ser927Thr) rs758116414 0.00001
NM_001127.4(AP1B1):c.911G>A (p.Arg304His) rs1010374023 0.00001
NM_001127.4(AP1B1):c.1031G>A (p.Arg344His)
NM_001127.4(AP1B1):c.1048A>G (p.Asn350Asp)
NM_001127.4(AP1B1):c.1123C>G (p.Arg375Gly)
NM_001127.4(AP1B1):c.1168C>T (p.Arg390Cys)
NM_001127.4(AP1B1):c.1234G>A (p.Val412Met)
NM_001127.4(AP1B1):c.1373G>A (p.Arg458Gln) rs780846849
NM_001127.4(AP1B1):c.1564C>G (p.Arg522Gly) rs1245595086
NM_001127.4(AP1B1):c.1666G>A (p.Glu556Lys)
NM_001127.4(AP1B1):c.1750G>C (p.Gly584Arg) rs760162142
NM_001127.4(AP1B1):c.1790C>T (p.Thr597Met)
NM_001127.4(AP1B1):c.1828C>G (p.Pro610Ala) rs750467942
NM_001127.4(AP1B1):c.1891G>T (p.Asp631Tyr)
NM_001127.4(AP1B1):c.2078C>T (p.Ala693Val)
NM_001127.4(AP1B1):c.2216C>T (p.Thr739Ile) rs1395587910
NM_001127.4(AP1B1):c.2228G>A (p.Gly743Asp)
NM_001127.4(AP1B1):c.2310-3C>G rs2061565545
NM_001127.4(AP1B1):c.2311T>C (p.Phe771Leu) rs2517764457
NM_001127.4(AP1B1):c.2335C>G (p.Leu779Val) rs776653588
NM_001127.4(AP1B1):c.2453ACA[1] (p.Asn819del) rs2061557149
NM_001127.4(AP1B1):c.2461G>A (p.Asp821Asn)
NM_001127.4(AP1B1):c.2624G>T (p.Ser875Ile) rs2061540908
NM_001127.4(AP1B1):c.2635A>G (p.Ser879Gly) rs1210359734
NM_001127.4(AP1B1):c.2668G>A (p.Val890Met) rs754456794
NM_001127.4(AP1B1):c.2683A>G (p.Met895Val)
NM_001127.4(AP1B1):c.2713G>A (p.Gly905Ser) rs764213357
NM_001127.4(AP1B1):c.2722G>A (p.Val908Met)
NM_001127.4(AP1B1):c.2722G>T (p.Val908Leu) rs905377582
NM_001127.4(AP1B1):c.2815G>A (p.Val939Met)
NM_001127.4(AP1B1):c.385T>A (p.Cys129Ser)
NM_001127.4(AP1B1):c.493C>T (p.Leu165Phe)
NM_001127.4(AP1B1):c.587T>G (p.Leu196Arg)
NM_001127.4(AP1B1):c.592G>A (p.Asp198Asn)
NM_001127.4(AP1B1):c.760G>A (p.Ala254Thr) rs200526044
NM_001127.4(AP1B1):c.810G>T (p.Leu270Phe)

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