ClinVar Miner

List of variants studied for basal ganglia disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_004562.3(PRKN):c.101_102del (p.Gln34fs) rs55777503 0.00027
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) rs775835429 0.00002
NM_198578.4(LRRK2):c.4235G>A (p.Arg1412Gln) rs751263185 0.00001
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly) rs2110525413
NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu) rs387906652
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg) rs781554326
NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
NM_020702.5(MYORG):c.841T>C (p.Tyr281His)
NM_020821.3(VPS13C):c.1304C>T (p.Thr435Ile)
NM_020821.3(VPS13C):c.7199A>G (p.Asn2400Ser)
NM_032409.3(PINK1):c.898C>T (p.Pro300Ser) rs2154533833
NM_198578.4(LRRK2):c.7015A>G (p.Arg2339Gly)

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