ClinVar Miner

List of variants reported as not provided for basal ganglia disorder by GenomeConnect, ClinGen

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) rs145515028 0.00044
NM_004606.5(TAF1):c.235+3G>A rs368024152 0.00014
NM_022089.4(ATP13A2):c.*24C>T rs375521810 0.00003
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3
NM_203446.3(SYNJ1):c.1183G>A (p.Ala395Thr) rs746354059

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