ClinVar Miner

List of variants in gene PEX14 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*564C>T rs561807671
NM_004565.3(PEX14):c.*576A>G rs530124005
NM_004565.3(PEX14):c.*755del rs548721184
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys)
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667
NM_004565.3(PEX14):c.36+8G>A rs200154696
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614
NM_004565.3(PEX14):c.384+14A>T rs284238
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.3(PEX14):c.553C>T (p.Gln185Ter) rs61752116
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp)
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820
PEX14, 41-KB DEL

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