ClinVar Miner

List of variants reported as benign for peroxisomal disease by Natera, Inc.

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_004035.7(ACOX1):c.936C>G (p.Ile312Met) rs1135640 0.53769
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_004035.7(ACOX1):c.1320T>C (p.Asp440=) rs8065946 0.06791
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_003659.4(AGPS):c.207A>G (p.Ala69=) rs34744592 0.02410
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_003659.4(AGPS):c.261-5A>C rs73029113 0.01813
NM_004035.7(ACOX1):c.591G>A (p.Gly197=) rs75808808 0.01720
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_003659.4(AGPS):c.147C>T (p.Pro49=) rs34442536 0.01033
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489 0.00908
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613 0.00869
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_004035.7(ACOX1):c.1520T>C (p.Ile507Thr) rs77139740 0.00707
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938 0.00672
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_004035.7(ACOX1):c.1794G>T (p.Leu598=) rs79605652 0.00571
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_004035.7(ACOX1):c.1302C>T (p.Phe434=) rs144742319 0.00404
NM_004035.7(ACOX1):c.954A>G (p.Glu318=) rs16968343 0.00404
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_003659.4(AGPS):c.1233+5A>G rs370777451 0.00181
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) rs151255626 0.00147
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp) rs557931141 0.00005
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) rs374533122 0.00003
NM_004035.7(ACOX1):c.867T>C (p.Ala289=) rs370001667 0.00002
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_003659.4(AGPS):c.1152C>A (p.Val384=) rs529236041

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