ClinVar Miner

List of variants studied for Autosomal recessive early-onset Parkinson disease 7 by Illumina Laboratory Services, Illumina

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Total variants: 23
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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 0.03865
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) rs71653619 0.00704
NM_007262.5(PARK7):c.*124C>T rs147437667 0.00484
NM_007262.5(PARK7):c.501A>G (p.Ala167=) rs71653621 0.00092
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 0.00007
NM_007262.5(PARK7):c.-80T>A rs140230911 0.00004
NM_007262.5(PARK7):c.502A>G (p.Ile168Val) rs374962638 0.00003
NM_007262.5(PARK7):c.73G>A (p.Val25Ile) rs781346135 0.00002
NM_007262.5(PARK7):c.*49A>G rs371482698 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
NM_007262.5(PARK7):c.*185T>A rs1640796249
NM_007262.5(PARK7):c.101C>T (p.Thr34Ile) rs772272696
NM_007262.5(PARK7):c.223G>A (p.Gly75Ser) rs886046545
NM_007262.5(PARK7):c.425C>T (p.Ser142Phe) rs1640786376
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) rs886046546
NM_007262.5(PARK7):c.91A>G (p.Ile31Val) rs749054218

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