ClinVar Miner

List of variants in gene PARK7 studied for Parkinson disease

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NC_000001.10:g.(?_8022836)_(8031035_?)dup
NC_000001.10:g.(?_8029385)_(8029484_?)del
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) rs74315353
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937
NM_007262.5(PARK7):c.28C>G (p.Leu10Val)
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619
NM_007262.5(PARK7):c.310G>A (p.Ala104Thr)
NM_007262.5(PARK7):c.399G>C (p.Met133Ile) rs398124657
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352
NM_007262.5(PARK7):c.448G>A (p.Gly150Ser)
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro) rs28938172
NM_007262.5(PARK7):c.511G>T (p.Ala171Ser)
NM_007262.5(PARK7):c.78G>A (p.Met26Ile) rs74315351
NM_007262.5(PARK7):c.91-4G>A rs756040385
nsv513788

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