ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Counsyl

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NM_000382.2(ALDH3A2):c.154_155delAG (p.Ser52Terfs)
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>C
NM_000382.3(ALDH3A2):c.1108-1G>T
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1443+1222del
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1443+1G>A
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352
NM_000382.3(ALDH3A2):c.798+1del
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter) rs986500427
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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