ClinVar Miner

List of variants in gene PEX7 reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000288.3(PEX7):c.-77T>C rs1321472 0.00160
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
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.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_000288.4(PEX7):c.*223T>A rs774681133 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*124A>G rs112796869
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T rs991168664
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-46_-38dup rs1554328233
NM_000288.4(PEX7):c.-69C>A rs528948146
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) rs61753239
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
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.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) rs374763007
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.917del (p.Ser306fs) rs1554337182
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) rs1554337188
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) rs988988279
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) rs374574552

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