ClinVar Miner

List of variants reported as uncertain significance for adult Refsum disease by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000288.4(PEX7):c.28C>T (p.Arg10Trp) rs1321528623 0.00012
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
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.65C>T (p.Ala22Val) rs1052621653 0.00004
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu) rs1003031615 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.730G>A (p.Ala244Thr) rs375091907 0.00003
NM_000288.4(PEX7):c.803+5A>G rs759078908 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 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.769G>A (p.Val257Met) rs771916687 0.00002
NM_000288.4(PEX7):c.950C>T (p.Ala317Val) rs541306617 0.00002
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.130+6G>C rs1299374519 0.00001
NM_000288.4(PEX7):c.167C>G (p.Ala56Gly) rs765902458 0.00001
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala) rs1774097181 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser) rs1391235393 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile) rs1181412133 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.442C>G (p.Leu148Val) rs752606372 0.00001
NM_000288.4(PEX7):c.525A>G (p.Ser175=) rs771080595 0.00001
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr) rs368435862 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.782G>A (p.Cys261Tyr) rs770301248 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.903+6G>A rs758226348 0.00001
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser) rs746310299 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NC_000006.11:g.(?_137143759)_(137143953_?)dup
NC_000006.11:g.(?_137143759)_(137167339_?)dup
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly) rs1774101933
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
NM_000288.4(PEX7):c.116A>G (p.His39Arg) rs61753237
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp) rs61753239
NM_000288.4(PEX7):c.130+3G>A
NM_000288.4(PEX7):c.130+5G>A
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr) rs2115129058
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu) rs2115129066
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
NM_000288.4(PEX7):c.195C>G (p.Asp65Glu) rs2115131716
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser) rs902252309
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu) rs1306941707
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu) rs1774097710
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
NM_000288.4(PEX7):c.275T>C (p.Leu92Pro)
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
NM_000288.4(PEX7):c.286G>A (p.Asp96Asn) rs1412257014
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu) rs760182861
NM_000288.4(PEX7):c.330C>G (p.His110Gln) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
NM_000288.4(PEX7):c.346_348del (p.Ser116del) rs1774581899
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
NM_000288.4(PEX7):c.385G>A (p.Val129Met) rs746310218
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg) rs1774098770
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro) rs1562734989
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
NM_000288.4(PEX7):c.53A>G (p.His18Arg) rs2115122498
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
NM_000288.4(PEX7):c.568G>A (p.Val190Ile)
NM_000288.4(PEX7):c.587C>T (p.Ala196Val) rs2115216804
NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
NM_000288.4(PEX7):c.633+3A>G
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)
NM_000288.4(PEX7):c.704T>C (p.Val235Ala)
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro) rs754346713
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser) rs375091907
NM_000288.4(PEX7):c.733A>G (p.Ile245Val) rs750815894
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.737G>T (p.Arg246Met) rs780186421
NM_000288.4(PEX7):c.747+5G>A rs1775145774
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
NM_000288.4(PEX7):c.803+5A>C
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
NM_000288.4(PEX7):c.830C>G (p.Ser277Cys)
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala) rs2115273002
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
NM_000288.4(PEX7):c.883A>G (p.Ser295Gly)
NM_000288.4(PEX7):c.903+5C>T
NM_000288.4(PEX7):c.911A>T (p.Asp304Val)
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu) rs2115300138
NM_000288.4(PEX7):c.964C>A (p.Pro322Thr)
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279

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