ClinVar Miner

List of variants in gene SLC20A2 reported as benign for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001257180.2(SLC20A2):c.*1057C>G rs6841 0.20257
NM_001257180.2(SLC20A2):c.*570G>T rs1803657 0.09069
NM_001257180.2(SLC20A2):c.*361A>G rs3763510 0.07343
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser) rs73675069 0.05347
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869 0.01957
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947 0.01931
NM_001257180.2(SLC20A2):c.*380C>T rs72643203 0.01547
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461 0.01539
NM_001257180.2(SLC20A2):c.290-13C>A rs114824268 0.01256
NM_001257180.2(SLC20A2):c.*113A>T rs115989387 0.00586
NM_001257180.2(SLC20A2):c.*112G>T rs114729286 0.00585
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974 0.00528
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899 0.00499
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889 0.00456
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953 0.00417
NM_001257180.2(SLC20A2):c.*263A>C rs145543019 0.00402
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270 0.00262
NM_001257180.2(SLC20A2):c.*120C>G rs569568894 0.00235
NM_001257180.2(SLC20A2):c.1134G>T (p.Arg378=) rs114636687 0.00212
NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln) rs138816265 0.00210
NM_001257180.2(SLC20A2):c.*926C>T rs575143642 0.00066
NM_001257180.2(SLC20A2):c.290-5T>C rs371924916 0.00063
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=) rs199935692 0.00033
NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=) rs114218633 0.00031
NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=) rs141545390 0.00026
NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met) rs145970823 0.00019
NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=) rs116068659 0.00016
NM_001257180.2(SLC20A2):c.935-12A>C rs144236532 0.00010
NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=) rs199804961 0.00002
NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile) rs369823081

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