ClinVar Miner

List of variants in gene PARK7 studied for Parkinson disease

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_007262.5(PARK7):c.-99T>C rs226249 0.66453
NM_007262.5(PARK7):c.323-14A>G rs72854882 0.05780
NM_007262.5(PARK7):c.-70C>T rs11121064 0.05022
NM_007262.5(PARK7):c.-22C>T rs11548933 0.04157
NM_007262.5(PARK7):c.234C>T (p.Gly78=) rs11548937 0.03501
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.252+18A>G rs147308281 0.00275
NM_007262.5(PARK7):c.501A>G (p.Ala167=) rs71653621 0.00099
NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) rs74315352 0.00061
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr) rs71653622 0.00048
NM_007262.5(PARK7):c.410-9A>G rs143947415 0.00016
NM_007262.5(PARK7):c.310G>A (p.Ala104Thr) rs774005786 0.00013
NM_007262.5(PARK7):c.*125G>A rs779587926 0.00010
NM_007262.5(PARK7):c.-30G>C rs886046544 0.00009
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln) rs142405016 0.00008
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala) rs45577037 0.00006
NM_007262.5(PARK7):c.-80T>A rs140230911 0.00004
NM_007262.5(PARK7):c.429G>A (p.Glu143=) rs140517273 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_007262.5(PARK7):c.91-5C>T rs539876064 0.00004
NM_007262.5(PARK7):c.502A>G (p.Ile168Val) rs374962638 0.00003
NM_007262.5(PARK7):c.56C>T (p.Thr19Met) rs758016497 0.00003
NM_007262.5(PARK7):c.73G>A (p.Val25Ile) rs781346135 0.00003
NM_007262.5(PARK7):c.91-4G>A rs756040385 0.00003
NM_007262.5(PARK7):c.448G>A (p.Gly150Ser) rs368420490 0.00002
NM_007262.5(PARK7):c.*49A>G rs371482698 0.00001
NM_007262.5(PARK7):c.16G>T (p.Ala6Ser) rs767539467 0.00001
NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) rs74315353 0.00001
NM_007262.5(PARK7):c.198A>G (p.Pro66=) rs201258798 0.00001
NM_007262.5(PARK7):c.28C>G (p.Leu10Val) rs1309873819 0.00001
NM_007262.5(PARK7):c.395A>G (p.Lys132Arg) rs1640614977 0.00001
NM_007262.5(PARK7):c.437T>G (p.Val146Gly) rs761919138 0.00001
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala) rs1472900688 0.00001
NM_007262.5(PARK7):c.59T>C (p.Val20Ala) rs370430693 0.00001
NM_007262.5(PARK7):c.91-11C>T rs1306465390 0.00001
NC_000001.10:g.(?_8022836)_(8031035_?)dup
NC_000001.10:g.(?_8022846)_(8037818_?)del
NC_000001.11:g.(?_7969325)_(7969424_?)del
NM_007262.4(PARK7):c.[-24+75_-24+92dup;487G>A]
NM_007262.5(PARK7):c.*185T>A rs1640796249
NM_007262.5(PARK7):c.101C>T (p.Thr34Ile) rs772272696
NM_007262.5(PARK7):c.103G>A (p.Val35Ile)
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)
NM_007262.5(PARK7):c.191_192del (p.Glu64fs) rs1553122929
NM_007262.5(PARK7):c.193-13dup rs768623509
NM_007262.5(PARK7):c.193-17G>A rs2151431064
NM_007262.5(PARK7):c.223G>A (p.Gly75Ser) rs886046545
NM_007262.5(PARK7):c.233G>A (p.Gly78Asp) rs2151431134
NM_007262.5(PARK7):c.252+8A>G
NM_007262.5(PARK7):c.252+8dup rs781094807
NM_007262.5(PARK7):c.253T>C (p.Ser85Pro) rs2151432344
NM_007262.5(PARK7):c.271A>G (p.Ile91Val) rs2151432369
NM_007262.5(PARK7):c.273A>C (p.Ile91=)
NM_007262.5(PARK7):c.300C>T (p.Gly100=)
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro) rs2151432401
NM_007262.5(PARK7):c.309C>T (p.Ala103=)
NM_007262.5(PARK7):c.322+12G>A rs1640453503
NM_007262.5(PARK7):c.322+6G>A
NM_007262.5(PARK7):c.322G>A (p.Gly108Ser) rs1252815484
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.399G>C (p.Met133Ile) rs398124657
NM_007262.5(PARK7):c.409+18TTTG[3] rs751547694
NM_007262.5(PARK7):c.409+18TTTG[5] rs751547694
NM_007262.5(PARK7):c.425C>T (p.Ser142Phe) rs1640786376
NM_007262.5(PARK7):c.444dup (p.Asp149fs)
NM_007262.5(PARK7):c.482G>C (p.Ser161Thr)
NM_007262.5(PARK7):c.494C>T (p.Ala165Val)
NM_007262.5(PARK7):c.497T>C (p.Leu166Pro) rs28938172
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) rs886046546
NM_007262.5(PARK7):c.511G>T (p.Ala171Ser) rs777026628
NM_007262.5(PARK7):c.515T>A (p.Leu172Gln)
NM_007262.5(PARK7):c.534G>A (p.Ala178=)
NM_007262.5(PARK7):c.54G>A (p.Glu18=)
NM_007262.5(PARK7):c.78G>A (p.Met26Ile) rs74315351
NM_007262.5(PARK7):c.82C>T (p.Arg28Ter) rs374429170
NM_007262.5(PARK7):c.90+1dup rs1578089802
NM_007262.5(PARK7):c.91-4G>C
NM_007262.5(PARK7):c.91A>G (p.Ile31Val) rs749054218
NM_007262.5(PARK7):c.96G>A (p.Lys32=)
nsv513788

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