ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance for Inborn genetic diseases

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00151
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00058
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00049
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00014
NM_000053.4(ATP7B):c.1544-12T>C rs201167060 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser) rs535217574 0.00008
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00007
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) rs543334965 0.00006
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His) rs202233544 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.2156A>G (p.Tyr719Cys) rs1003203457 0.00002
NM_000053.4(ATP7B):c.2219C>T (p.Ala740Val) rs1406386204 0.00002
NM_000053.4(ATP7B):c.3413A>G (p.Asp1138Gly) rs375721306 0.00002
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) rs766943890 0.00001
NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser) rs1264892091 0.00001
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val) rs891441232 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2876A>T (p.Lys959Met) rs1957667608 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741 0.00001
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu) rs1956864058 0.00001
NM_000053.4(ATP7B):c.599A>G (p.His200Arg) rs975678311 0.00001
NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln) rs201522558 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000053.4(ATP7B):c.1031A>G (p.His344Arg) rs2547815799
NM_000053.4(ATP7B):c.1076G>A (p.Ser359Asn) rs2547815258
NM_000053.4(ATP7B):c.1081A>T (p.Thr361Ser) rs2547815205
NM_000053.4(ATP7B):c.1165C>G (p.Gln389Glu) rs2547814335
NM_000053.4(ATP7B):c.1202T>C (p.Val401Ala) rs2547813898
NM_000053.4(ATP7B):c.1409A>G (p.His470Arg) rs2547794185
NM_000053.4(ATP7B):c.1603G>A (p.Glu535Lys) rs2547778894
NM_000053.4(ATP7B):c.161C>G (p.Ser54Cys) rs2547825581
NM_000053.4(ATP7B):c.1631A>G (p.Gln544Arg) rs1260868219
NM_000053.4(ATP7B):c.1750T>G (p.Ser584Ala)
NM_000053.4(ATP7B):c.1760C>G (p.Thr587Arg)
NM_000053.4(ATP7B):c.1859A>G (p.Lys620Arg)
NM_000053.4(ATP7B):c.1919A>G (p.His640Arg) rs369147145
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) rs2139612314
NM_000053.4(ATP7B):c.2018T>C (p.Ile673Thr)
NM_000053.4(ATP7B):c.203C>G (p.Thr68Ser) rs2547825175
NM_000053.4(ATP7B):c.2092A>C (p.Ile698Leu) rs1958635417
NM_000053.4(ATP7B):c.2111C>A (p.Thr704Asn)
NM_000053.4(ATP7B):c.2162C>A (p.Ser721Tyr) rs1794191672
NM_000053.4(ATP7B):c.2171A>G (p.His724Arg) rs2547716171
NM_000053.4(ATP7B):c.2255T>C (p.Val752Ala) rs1202332838
NM_000053.4(ATP7B):c.2434A>C (p.Asn812His) rs2547709548
NM_000053.4(ATP7B):c.2495A>C (p.Lys832Thr) rs1061472
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2843G>T (p.Gly948Val) rs1371525283
NM_000053.4(ATP7B):c.2856A>C (p.Arg952Ser)
NM_000053.4(ATP7B):c.3056A>G (p.His1019Arg) rs2547645009
NM_000053.4(ATP7B):c.3058A>G (p.Lys1020Glu)
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3298T>C (p.Cys1100Arg) rs1566468882
NM_000053.4(ATP7B):c.3308G>A (p.Gly1103Glu) rs2547612848
NM_000053.4(ATP7B):c.3329A>C (p.Glu1110Ala) rs2547612568
NM_000053.4(ATP7B):c.3392G>A (p.Gly1131Asp)
NM_000053.4(ATP7B):c.3418G>A (p.Val1140Ile) rs1957311959
NM_000053.4(ATP7B):c.3477A>T (p.Leu1159Phe) rs2547600693
NM_000053.4(ATP7B):c.3608C>T (p.Ala1203Val) rs1593652348
NM_000053.4(ATP7B):c.3623C>G (p.Thr1208Arg) rs370713752
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.4010C>T (p.Pro1337Leu)
NM_000053.4(ATP7B):c.4179G>T (p.Lys1393Asn)
NM_000053.4(ATP7B):c.424G>C (p.Glu142Gln) rs2547822978
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro) rs1454806333
NM_000053.4(ATP7B):c.4323C>G (p.His1441Gln) rs1163407442
NM_000053.4(ATP7B):c.52A>G (p.Ile18Val) rs2547826576
NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp) rs1952013968
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met) rs199514391
NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala) rs2140092373
NM_000053.4(ATP7B):c.779A>G (p.Gln260Arg)
NM_000053.4(ATP7B):c.79C>G (p.Arg27Gly)

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