ClinVar Miner

List of variants reported as pathogenic for autosomal ichthyosis syndrome by Baylor Genetics

Included ClinVar conditions (42):
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Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
GRCh37/hg19 3q28(chr3:190039387-190040504)
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.670-1G>A rs1561982219
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391

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