ClinVar Miner

List of variants studied for Hypermanganesemia with dystonia, polycythemia, and cirrhosis by Illumina Laboratory Services, Illumina

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_018713.3(SLC30A10):c.*744G>T rs2275707 0.85264
NM_018713.3(SLC30A10):c.*276C>T rs138571819 0.02157
NM_018713.3(SLC30A10):c.-54C>A rs115645353 0.01743
NM_018713.3(SLC30A10):c.640+10G>A rs79328219 0.00931
NM_018713.3(SLC30A10):c.*847G>A rs143476893 0.00353
NM_018713.3(SLC30A10):c.-87A>T rs531545790 0.00315
NM_018713.3(SLC30A10):c.*945C>T rs115277486 0.00246
NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile) rs188273166 0.00060
NM_018713.3(SLC30A10):c.*630G>A rs750495262 0.00055
NM_018713.3(SLC30A10):c.719-6T>C rs61832076 0.00034
NM_018713.3(SLC30A10):c.789T>C (p.Tyr263=) rs138025172 0.00034
NM_018713.3(SLC30A10):c.*315G>A rs1009314082 0.00016
NM_018713.3(SLC30A10):c.-19G>A rs199933401 0.00015
NM_018713.3(SLC30A10):c.-68C>T rs886046004 0.00015
NM_018713.3(SLC30A10):c.*70G>A rs748772564 0.00011
NM_018713.3(SLC30A10):c.*117G>C rs917343883 0.00009
NM_018713.3(SLC30A10):c.1118C>A (p.Ala373Glu) rs202111121 0.00009
NM_018713.3(SLC30A10):c.*172T>C rs1383718158 0.00006
NM_018713.3(SLC30A10):c.1248C>T (p.Pro416=) rs781687046 0.00006
NM_018713.3(SLC30A10):c.516C>G (p.Gly172=) rs539271108 0.00006
NM_018713.3(SLC30A10):c.1399G>A (p.Gly467Arg) rs372826011 0.00004
NM_018713.3(SLC30A10):c.676A>G (p.Met226Val) rs199783843 0.00004
NM_018713.3(SLC30A10):c.-70C>T rs886046005 0.00003
NM_018713.3(SLC30A10):c.907G>A (p.Ala303Thr) rs34097842 0.00003
NM_018713.3(SLC30A10):c.*466A>T rs972827342 0.00002
NM_018713.3(SLC30A10):c.1272C>T (p.His424=) rs544895572 0.00002
NM_018713.3(SLC30A10):c.624G>A (p.Val208=) rs760889956 0.00002
NM_018713.3(SLC30A10):c.*1188T>C rs535541750 0.00001
NM_018713.3(SLC30A10):c.*452T>G rs1230409448 0.00001
NM_018713.3(SLC30A10):c.-20C>A rs886046003 0.00001
NM_018713.3(SLC30A10):c.440G>C (p.Gly147Ala) rs886046002 0.00001
NM_018713.3(SLC30A10):c.482G>T (p.Gly161Val) rs1441035788 0.00001
NM_018713.3(SLC30A10):c.66C>G (p.Phe22Leu) rs747984224 0.00001
NM_018713.3(SLC30A10):c.76C>G (p.Leu26Val) rs774149422 0.00001
NM_018713.3(SLC30A10):c.*1088G>A rs2275706
NM_018713.3(SLC30A10):c.*1088G>C rs2275706
NM_018713.3(SLC30A10):c.*1128del rs59755757
NM_018713.3(SLC30A10):c.*115C>G rs2231736
NM_018713.3(SLC30A10):c.*239A>G rs886046000
NM_018713.3(SLC30A10):c.*356G>A rs1659501427
NM_018713.3(SLC30A10):c.*397C>T rs747429986
NM_018713.3(SLC30A10):c.1068C>T (p.Asp356=) rs886046001
NM_018713.3(SLC30A10):c.1249C>G (p.Pro417Ala) rs757737775
NM_018713.3(SLC30A10):c.1449G>A (p.Thr483=) rs148203711

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