ClinVar Miner

List of variants in gene PARK7 reported as likely benign for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00688
NM_007262.5(PARK7):c.*124C>T rs147437667 0.00484
NM_007262.5(PARK7):c.166G>A (p.Ala56Thr) rs114601558 0.00448
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352 0.00061
NM_007262.5(PARK7):c.410-9A>G rs143947415 0.00016
NM_007262.5(PARK7):c.429G>A (p.Glu143=) rs140517273 0.00004
NM_007262.5(PARK7):c.91-5C>T rs539876064 0.00004
NM_007262.5(PARK7):c.91-4G>A rs756040385 0.00003
NM_007262.5(PARK7):c.193-17G>A rs2151431064
NM_007262.5(PARK7):c.252+8A>G
NM_007262.5(PARK7):c.252+8dup rs781094807
NM_007262.5(PARK7):c.273A>C (p.Ile91=)
NM_007262.5(PARK7):c.300C>T (p.Gly100=)
NM_007262.5(PARK7):c.309C>T (p.Ala103=)
NM_007262.5(PARK7):c.322+12G>A rs1640453503
NM_007262.5(PARK7):c.323-10T>A
NM_007262.5(PARK7):c.323-16T>C
NM_007262.5(PARK7):c.323-20C>A
NM_007262.5(PARK7):c.409+18TTTG[3] rs751547694
NM_007262.5(PARK7):c.409+18TTTG[5] rs751547694
NM_007262.5(PARK7):c.534G>A (p.Ala178=)
NM_007262.5(PARK7):c.54G>A (p.Glu18=)
NM_007262.5(PARK7):c.91-4G>C
NM_007262.5(PARK7):c.96G>A (p.Lys32=)

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