ClinVar Miner

List of variants reported as likely pathogenic for basal ganglia disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln) rs147757966 0.00006
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_000157.4(GBA1):c.762-1G>C rs1237637353 0.00003
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687 0.00003
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) rs121908305 0.00001
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) rs794727908 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser) rs1226997153 0.00001
NM_004562.3(PRKN):c.1A>G (p.Met1Val) rs772786691 0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) rs1472900688 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
GRCh37/hg19 6q26(chr6:162206818-162206900)
GRCh37/hg19 6q26(chr6:162475128-162475157)
GRCh37/hg19 6q26(chr6:162683576-162683772)
GRCh37/hg19 6q26(chr6:162864400-162864441)
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) rs1553217294
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter) rs1440010564
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289

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