ClinVar Miner

List of variants in gene LOC126805616, PEX14 studied for peroxisomal disease

Included ClinVar conditions (82):
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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_004565.3(PEX14):c.567C>T (p.His189=) rs147210317 0.00033
NM_004565.3(PEX14):c.488-4G>A rs376837541 0.00010
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004565.3(PEX14):c.577G>A (p.Ala193Thr) rs369625174 0.00006
NM_004565.3(PEX14):c.517G>T (p.Val173Phe) rs200019568 0.00005
NM_004565.3(PEX14):c.488-5C>T rs767128417 0.00003
NM_004565.3(PEX14):c.568G>A (p.Glu190Lys) rs144362955 0.00002
NM_004565.3(PEX14):c.585+18A>C rs532665793 0.00002
NM_004565.3(PEX14):c.488-22_488-20del rs1193800404 0.00001
NM_004565.3(PEX14):c.507C>T (p.Thr169=) rs374000675 0.00001
NM_004565.3(PEX14):c.510C>T (p.Leu170=) rs1319304159 0.00001
NM_004565.3(PEX14):c.511G>A (p.Ala171Thr) rs1330745700 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.531G>C (p.Leu177=) rs1641685652 0.00001
NM_004565.3(PEX14):c.556G>C (p.Glu186Gln) rs543130270 0.00001
NM_004565.3(PEX14):c.576C>T (p.Ala192=) rs377059083 0.00001
NM_004565.3(PEX14):c.488-15G>A
NM_004565.3(PEX14):c.510C>G (p.Leu170=) rs1319304159
NM_004565.3(PEX14):c.517G>A (p.Val173Ile) rs200019568
NM_004565.3(PEX14):c.519C>G (p.Val173=)
NM_004565.3(PEX14):c.525G>A (p.Glu175=)
NM_004565.3(PEX14):c.535C>G (p.Gln179Glu)
NM_004565.3(PEX14):c.543G>A (p.Gln181=) rs1557438039
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_004565.3(PEX14):c.566A>G (p.His189Arg)
NM_004565.3(PEX14):c.585+10T>C
NM_004565.3(PEX14):c.585+11C>T
NM_004565.3(PEX14):c.585+11_585+12del
NM_004565.3(PEX14):c.585+19C>T
NM_004565.3(PEX14):c.585+23_585+32dup rs566024461
NM_004565.3(PEX14):c.585+4C>A rs1283396816
NM_004565.3(PEX14):c.585G>A (p.Lys195=)

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