ClinVar Miner

List of variants in gene PEX7 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
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.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.126C>T (p.Ile42=) rs1464741803 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.171G>C (p.Gly57=) rs750791932 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.630T>C (p.Asn210=) rs1466368201 0.00004
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe) rs760967879 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.867T>C (p.Thr289=) rs936175997 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.150A>G (p.Ile50Met) rs1176597209 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.903+6G>A rs758226348 0.00001
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.177G>C (p.Arg59Ser) rs1562725406
NM_000288.4(PEX7):c.183T>A (p.Phe61Leu) rs1562725419
NM_000288.4(PEX7):c.213del (p.Phe71fs) rs1190462422
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.418-4G>A rs199552223
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro) rs1562734989
NM_000288.4(PEX7):c.654G>A (p.Ala218=) rs1414537422
NM_000288.4(PEX7):c.665G>A (p.Ser222Asn) rs1414037701
NM_000288.4(PEX7):c.67G>A (p.Glu23Lys) rs1562723897
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.880T>C (p.Phe294Leu) rs1562756846

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