ClinVar Miner

List of variants in gene PARK7 reported as uncertain significance for basal ganglia disorder

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_007262.5(PARK7):c.501A>G (p.Ala167=) rs71653621 0.00099
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr) rs71653622 0.00048
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.328A>G (p.Thr110Ala) rs45577037 0.00006
NM_007262.5(PARK7):c.-80T>A rs140230911 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 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.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.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.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.(?_8037692)_(8045114_?)dup
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.142C>T (p.Arg48Cys)
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.253T>C (p.Ser85Pro) rs2151432344
NM_007262.5(PARK7):c.271A>G (p.Ile91Val) rs2151432369
NM_007262.5(PARK7):c.322+6G>A
NM_007262.5(PARK7):c.377A>G (p.His126Arg) rs2151436437
NM_007262.5(PARK7):c.399G>C (p.Met133Ile) rs398124657
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.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.91A>G (p.Ile31Val) rs749054218

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