ClinVar Miner

List of variants in gene ABCC6 reported as benign for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3633+100A>C rs3851721 0.97755
NM_001171.6(ABCC6):c.2787+62T>C rs11866320 0.97736
NM_001171.6(ABCC6):c.2788-127A>G rs7201980 0.97599
NM_001171.6(ABCC6):c.2788-154T>C rs6498608 0.97501
NM_001171.6(ABCC6):c.3882+85C>T rs3896244 0.97343
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001171.6(ABCC6):c.1432-48G>A rs7193932 0.95000
NM_001171.6(ABCC6):c.1338+7C>G rs9940089 0.75013
NM_001171.6(ABCC6):c.1431+73C>G rs6498618 0.71456
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) rs12931472 0.44841
NM_001171.6(ABCC6):c.1867+92G>A rs7192265 0.44653
NM_001171.6(ABCC6):c.1780-86G>T rs4369696 0.44514
NM_001171.6(ABCC6):c.1867+86T>C rs7192961 0.43963
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln) rs8058694 0.43467
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=) rs8058696 0.42733
NM_001171.6(ABCC6):c.4404-31A>G rs212097 0.35863
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_001171.6(ABCC6):c.1432-41A>G rs2239322 0.23891
NM_001171.6(ABCC6):c.1635+48C>T rs55707615 0.23698
NM_001171.6(ABCC6):c.1338+62C>G rs58394656 0.23048
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.3633+55C>T rs3213470 0.20050
NM_001171.6(ABCC6):c.3633+90G>A rs2376957 0.19271
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=) rs2856585 0.08929
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.*17G>A rs3902401 0.05552
NM_001171.6(ABCC6):c.3507-16T>C rs3213471 0.04995
NM_001171.6(ABCC6):c.645G>A (p.Thr215=) rs72664282 0.04543
NM_001171.6(ABCC6):c.345+26C>T rs56019914 0.03581
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313 0.02791
NM_001171.6(ABCC6):c.2175A>T (p.Val725=) rs59757815 0.02503
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=) rs72664283 0.01355
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn) rs192110266 0.00934
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val) rs72657699 0.00744
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1867+60A>G rs8056103
NM_001171.6(ABCC6):c.1868-57G>A rs41278182
NM_001171.6(ABCC6):c.1868-85del rs55685226
NM_001171.6(ABCC6):c.2666+134del rs11295432
NM_001171.6(ABCC6):c.3506+83A>C rs3213473
NM_001171.6(ABCC6):c.3735+55del rs56822940

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.