ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Baylor Genetics

Included ClinVar conditions (42):
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ClinVar version:
Total variants: 56
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HGVS dbSNP
GRCh37/hg19 3q28(chr3:190039387-190040504)
NM_000122.1(ERCC3):c.359C>T (p.Ala120Val) rs370115857
NM_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.145G>A (p.Gly49Ser)
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser)
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.3(ERCC2):c.679C>T (p.Arg227Cys) rs137910235
NM_000400.4(ERCC2):c.1119-85G>A
NM_000400.4(ERCC2):c.1238-1192G>A
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)
NM_000400.4(ERCC2):c.1832-3C>G
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
NM_000400.4(ERCC2):c.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)
NM_000400.4(ERCC2):c.595-10G>A
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)
NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)
NM_004782.4(SNAP29):c.435-3A>G
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058
NM_006846.3(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly)
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu)
NM_006978.3(RNF113A):c.484T>C (p.Tyr162His)
NM_006978.3(RNF113A):c.76G>A (p.Gly26Arg)
NM_014908.4(DOLK):c.-15C>T
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)
NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser)
NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg)
NM_022067.4(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.670-1G>A rs1561982219
NM_138701.4(MPLKIP):c.49G>A (p.Gly17Ser)
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)
NM_182760.4(SUMF1):c.13G>A (p.Ala5Thr)
NM_182760.4(SUMF1):c.571C>A (p.Pro191Thr)
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.818A>G (p.Asp273Gly)
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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