ClinVar Miner

List of variants reported as likely benign for basal ganglia disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.861C>T (p.Ser287=) rs116833881 0.00976
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351 0.00589
NM_022089.4(ATP13A2):c.1195+10G>A rs55689004 0.00585
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_022089.4(ATP13A2):c.*120A>T rs41273151 0.00422
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996 0.00396
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=) rs56351817 0.00324
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470 0.00289
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075

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