ClinVar Miner

List of variants reported as likely benign for autosomal ichthyosis syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_000288.4(PEX7):c.*115A>G
NM_000288.4(PEX7):c.*272A>G rs186705952
NM_000288.4(PEX7):c.*38G>A rs41288965
NM_000288.4(PEX7):c.-31G>A rs115866467
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000382.3(ALDH3A2):c.*292G>T
NM_000382.3(ALDH3A2):c.*847C>T
NM_000382.3(ALDH3A2):c.-149C>G
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001365650.1(ABHD5):c.-114A>G rs74845403
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.546G>A (p.Val182=)
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004782.4(SNAP29):c.*1667G>A rs370941828
NM_004782.4(SNAP29):c.*2143G>A rs370242754
NM_004782.4(SNAP29):c.*2277C>T
NM_004782.4(SNAP29):c.*2411T>C rs139989203
NM_004782.4(SNAP29):c.*26T>C
NM_004782.4(SNAP29):c.*3246A>G
NM_004782.4(SNAP29):c.*3252T>G rs376610436
NM_004782.4(SNAP29):c.*3285G>T
NM_004782.4(SNAP29):c.*614C>G rs192171507
NM_004782.4(SNAP29):c.234C>G (p.Ser78=) rs144160898
NM_006214.4(PHYH):c.*22T>G rs186628076
NM_006214.4(PHYH):c.*47G>A rs180770135
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501
NM_006214.4(PHYH):c.415-11del rs140309981
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_006214.4(PHYH):c.980G>A (p.Arg327Gln) rs367851769
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_016006.6(ABHD5):c.*1758_*1759insG rs34011416
NM_016006.6(ABHD5):c.*3372A>C rs564535027
NM_016006.6(ABHD5):c.*4189C>T rs113711457
NM_016006.6(ABHD5):c.*96A>G
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) rs144420157
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) rs140969259
NM_018668.4(VPS33B):c.-269T>C rs561174112
NM_018668.4(VPS33B):c.1170+5G>A rs201431055
NM_018668.4(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507
NM_018668.4(VPS33B):c.1701C>T (p.Leu567=) rs146999653
NM_018668.4(VPS33B):c.240-13_240-12del rs111274092
NM_018668.4(VPS33B):c.363T>C (p.Tyr121=) rs149733667
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485
NM_018668.5(VPS33B):c.604-14T>C
NM_139057.4(ADAMTS17):c.*1234G>A
NM_139057.4(ADAMTS17):c.*1244C>G rs561561821
NM_139057.4(ADAMTS17):c.*1315C>T rs185582795
NM_139057.4(ADAMTS17):c.*1546G>A rs149694490
NM_139057.4(ADAMTS17):c.*1653C>G rs536677830
NM_139057.4(ADAMTS17):c.*172_*174del rs137961566
NM_139057.4(ADAMTS17):c.*1946G>T rs77749500
NM_139057.4(ADAMTS17):c.*19G>A
NM_139057.4(ADAMTS17):c.*2157_*2158AG[1] rs144918924
NM_139057.4(ADAMTS17):c.*2228G>C
NM_139057.4(ADAMTS17):c.*2313T>C rs562633764
NM_139057.4(ADAMTS17):c.*2354C>G rs8036076
NM_139057.4(ADAMTS17):c.*2605G>C rs191759654
NM_139057.4(ADAMTS17):c.*2637C>G
NM_139057.4(ADAMTS17):c.*2747T>G
NM_139057.4(ADAMTS17):c.*420G>A rs556966662
NM_139057.4(ADAMTS17):c.*474C>T
NM_139057.4(ADAMTS17):c.*880C>T
NM_139057.4(ADAMTS17):c.*882G>T rs2581358
NM_139057.4(ADAMTS17):c.*959C>T
NM_139057.4(ADAMTS17):c.*960G>A rs180868548
NM_139057.4(ADAMTS17):c.-9C>T rs192272127
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=) rs559102316
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=) rs148939974
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=) rs117133620
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala) rs202099735
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379
NM_139057.4(ADAMTS17):c.3128-12C>T rs182634994
NM_139057.4(ADAMTS17):c.3128-6C>T
NM_182760.4(SUMF1):c.*396C>G
NM_182760.4(SUMF1):c.*445A>G rs114640216
NM_182760.4(SUMF1):c.*836C>G rs140229372
NM_182760.4(SUMF1):c.*949G>A rs575414528
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221

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