ClinVar Miner

List of variants in gene PEX7 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_000288.4(PEX7):c.340-103A>G rs2295592 0.10001
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000288.4(PEX7):c.526+14T>C rs73777756 0.00279
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000288.4(PEX7):c.748-16C>T rs200965122 0.00042
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000288.4(PEX7):c.131-9del rs760985736
NM_000288.4(PEX7):c.131-9dup
NM_000288.4(PEX7):c.527-6dup
NM_000288.4(PEX7):c.747+17del rs2115224706
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.748-6_748-5dup
NM_000288.4(PEX7):c.904-10del

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