ClinVar Miner

List of variants reported as likely benign for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
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.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.474+13G>A rs111339199 0.01326
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
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.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_001171.6(ABCC6):c.1432-9C>T rs201633047 0.00108
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001171.6(ABCC6):c.1636-20G>A rs200894424 0.00073
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001171.6(ABCC6):c.3507-15C>T rs374776435 0.00034
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001171.6(ABCC6):c.3507-17G>A rs58571995 0.00026
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001171.6(ABCC6):c.1141T>C (p.Leu381=) rs72664284 0.00018
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) rs542502733 0.00016
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) rs534017491 0.00016
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) rs145693403 0.00014
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 0.00009
NM_001171.6(ABCC6):c.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.4404-5C>A rs58190361 0.00006
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=) rs57866002 0.00004
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.2820T>G (p.Arg940=) rs72664286 0.00003
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) rs375741855 0.00003
NM_001171.6(ABCC6):c.4042-15G>A rs371489110 0.00003
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621 0.00002
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) rs747341864 0.00001
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) rs189252048 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 0.00001
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) rs60990156 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 0.00001
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) rs746045818 0.00001
NM_001171.6(ABCC6):c.3507-14G>A rs1006071217 0.00001
NM_001171.6(ABCC6):c.3735+10G>A rs372710375 0.00001
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) rs61294695 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001171.6(ABCC6):c.1176+6C>T rs72664295
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.2996-7_2996-4del
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921
NM_001171.6(ABCC6):c.855C>T (p.Thr285=) rs4780605

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