ClinVar Miner

List of variants reported as benign for Peroxisome biogenesis disorder, complementation group K by Invitae

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004565.3(PEX14):c.84+8231A>G rs10864459 0.59806
NM_004565.3(PEX14):c.84+10837A>G rs616488 0.27206
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_004565.3(PEX14):c.299-16C>T rs201545377 0.00297
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055 0.00097
NM_004565.3(PEX14):c.1116C>T (p.Asn372=) rs149856184 0.00066
NM_004565.3(PEX14):c.384+17G>A rs199913711 0.00048
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_004565.3(PEX14):c.84+17T>C rs373584636 0.00024
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004565.3(PEX14):c.1107C>T (p.Gly369=) rs781098256 0.00007
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.299-8G>T rs112851814

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