ClinVar Miner

List of variants reported for Autosomal recessive early-onset Parkinson disease 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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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.*125G>A rs779587926 0.00010
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala) rs45577037 0.00006
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_007262.5(PARK7):c.105dup (p.Ala36fs) rs781600849
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) rs886046546

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