ClinVar Miner

List of variants studied for adult Refsum disease by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_006214.4(PHYH):c.135-2A>G rs201578674 0.00017
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_000288.4(PEX7):c.116A>C (p.His39Pro) rs61753237 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_006214.4(PHYH):c.375_376del (p.Glu126fs) rs1435262914 0.00003
NM_000288.4(PEX7):c.130+1G>A rs267608253 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser) rs1391235393 0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154 0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_006214.4(PHYH):c.135-1G>C rs1057272016 0.00001
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser) rs104894173 0.00001
NM_006214.4(PHYH):c.824G>A (p.Arg275Gln) rs104894174 0.00001
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+2del
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter) rs62653604
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) rs764346452
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter) rs1173171051
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
NM_000288.4(PEX7):c.513del (p.Phe171fs)
NM_000288.4(PEX7):c.538_539del (p.Leu180fs) rs1582757650
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
NM_000288.4(PEX7):c.634-2A>G
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.747del (p.Lys249fs)
NM_000288.4(PEX7):c.748-2A>G rs778862698
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_006214.4(PHYH):c.124C>T (p.Gln42Ter)
NM_006214.4(PHYH):c.225del (p.Asp75fs)
NM_006214.4(PHYH):c.343G>T (p.Glu115Ter)
NM_006214.4(PHYH):c.388del (p.Leu130fs)
NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter)
NM_006214.4(PHYH):c.415-1G>T
NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer)
NM_006214.4(PHYH):c.42_60dup (p.Ser21fs) rs1267819026
NM_006214.4(PHYH):c.457del (p.Ala153fs)
NM_006214.4(PHYH):c.497-1G>A rs761927136
NM_006214.4(PHYH):c.50dup (p.Gly18fs)
NM_006214.4(PHYH):c.520dup (p.Leu174fs)
NM_006214.4(PHYH):c.527_528del (p.Gln176fs)
NM_006214.4(PHYH):c.578G>A (p.Trp193Ter)
NM_006214.4(PHYH):c.679-1dup rs767403321
NM_006214.4(PHYH):c.811del (p.Thr271fs) rs2131634446
NM_006214.4(PHYH):c.896del (p.Asn299fs)

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