ClinVar Miner

List of variants reported as uncertain significance for Hypermanganesemia with dystonia, polycythemia, and cirrhosis by Illumina Laboratory Services, Illumina

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_018713.3(SLC30A10):c.*847G>A rs143476893 0.00353
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.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.624G>A (p.Val208=) rs760889956 0.00002
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>C rs2275706
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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