ClinVar Miner

List of variants reported as pathogenic for autosomal recessive inherited pseudoxanthoma elasticum

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp) rs281865557 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793 0.00002
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) rs72653795 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro) rs63750410 0.00002
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) rs66913554 0.00002
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg) rs78678589 0.00002
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly) rs1357894483 0.00001
NM_001171.6(ABCC6):c.2258T>C (p.Leu753Pro) rs1555512484 0.00001
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro) rs72653797 0.00001
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser) rs63750446 0.00001
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=) rs63751111 0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) rs63751241 0.00001
NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg) rs63750700 0.00001
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) rs72547524 0.00001
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
NC_000016.10:g.(?_15703134)_(16223472_?)del
NC_000016.10:g.(?_15788690)_(16185034_?)del
NG_007558.2:g.(60799_60814)_(77206_77221)del
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?)
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) rs387906353
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly) rs72653764
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) rs1596687174
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) rs74315130
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys) rs72653780
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp) rs72653781
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter)
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro) rs72653783
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp) rs776513864
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp) rs72653789
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter) rs66492417
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn) rs72653790
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe) rs72653792
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg) rs72653796
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs)
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter) rs2046997344
NM_001171.6(ABCC6):c.3306+1del rs797045078
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu) rs63750987
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro) rs60791294
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs) rs1555507927
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe) rs63751325
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln) rs63750414
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro) rs63750414
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His) rs63751111
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg) rs63750018
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser) rs947230593
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) rs387906352
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys) rs72653754
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg) rs78678589

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