ClinVar Miner

List of variants in gene combination ATP7B, TMEM272 reported as uncertain significance for disorder of copper metabolism

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.*1385G>A rs41292780 0.00987
NM_000053.4(ATP7B):c.*1491A>G rs139053981 0.00461
NM_000053.4(ATP7B):c.*1659A>G rs113688195 0.00384
NM_000053.4(ATP7B):c.*1005G>T rs563813110 0.00140
NM_000053.4(ATP7B):c.*1499A>T rs567043686 0.00095
NM_000053.4(ATP7B):c.*1036C>T rs533209080 0.00070
NM_000053.4(ATP7B):c.*833A>T rs536279126 0.00055
NM_000053.4(ATP7B):c.*1014A>G rs540878290 0.00046
NM_000053.4(ATP7B):c.*1240T>G rs145132668 0.00041
NM_000053.4(ATP7B):c.*870C>T rs532782366 0.00038
NM_000053.4(ATP7B):c.*1746C>T rs746211484 0.00028
NM_000053.4(ATP7B):c.*1076A>T rs564499990 0.00027
NM_000053.4(ATP7B):c.*1206G>A rs565920162 0.00026
NM_000053.4(ATP7B):c.*1409A>C rs537012324 0.00023
NM_000053.4(ATP7B):c.*1773C>G rs956624725 0.00023
NM_000053.4(ATP7B):c.*963C>T rs371788814 0.00023
NM_000053.4(ATP7B):c.*1265A>G rs762692870 0.00022
NM_000053.4(ATP7B):c.*1558T>A rs886050298 0.00020
NM_000053.4(ATP7B):c.*920G>A rs550451051 0.00019
NM_000053.4(ATP7B):c.*1901G>A rs886050294 0.00013
NM_000053.4(ATP7B):c.*1124C>G rs987141372 0.00009
NM_000053.4(ATP7B):c.*1128G>A rs1026086231 0.00008
NM_000053.4(ATP7B):c.*1805C>T rs182439700 0.00005
NM_000053.4(ATP7B):c.*421C>T rs556584760 0.00003
NM_000053.4(ATP7B):c.*786T>C rs886050302 0.00003
NM_000053.4(ATP7B):c.*1286G>A rs904728739 0.00002
NM_000053.4(ATP7B):c.*1095C>T rs886050300 0.00001
NM_000053.4(ATP7B):c.*1592T>C rs886050297 0.00001
NM_000053.4(ATP7B):c.*1618G>A rs555136047 0.00001
NM_000053.4(ATP7B):c.*668C>A rs1956830486 0.00001
NM_000053.4(ATP7B):c.*767T>A rs933966441 0.00001
NM_000053.4(ATP7B):c.*843C>T rs566445276 0.00001
NM_000053.4(ATP7B):c.*851T>C rs553202651 0.00001
NM_000053.4(ATP7B):c.*1005G>A rs563813110
NM_000053.4(ATP7B):c.*1019A>G rs1956813969
NM_000053.4(ATP7B):c.*1104C>A rs779530224
NM_000053.4(ATP7B):c.*1170C>G rs555405546
NM_000053.4(ATP7B):c.*1423T>C rs1446694801
NM_000053.4(ATP7B):c.*1493T>C rs886050299
NM_000053.4(ATP7B):c.*1756T>C rs886050296
NM_000053.4(ATP7B):c.*1782del rs886050295
NM_000053.4(ATP7B):c.*510G>T rs886050304
NM_000053.4(ATP7B):c.*781T>C rs886050303
NM_000053.4(ATP7B):c.*994_*997del rs886050301

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