ClinVar Miner

List of variants in gene PARK7 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 10
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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.501A>G (p.Ala167=) rs71653621 0.00099
NM_007262.5(PARK7):c.218C>T (p.Pro73Leu) rs367584305 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_007262.5(PARK7):c.67G>A (p.Val23Ile) rs757247182 0.00001
NM_007262.5(PARK7):c.101C>T (p.Thr34Ile) rs772272696
NM_007262.5(PARK7):c.189dup (p.Glu64fs) rs759703272
NM_007262.5(PARK7):c.285G>A (p.Gln95=) rs1640452044
NM_007262.5(PARK7):c.433C>A (p.Arg145Ser)
NM_007262.5(PARK7):c.436G>A (p.Val146Met) rs375023875

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