ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) rs1559412343
NM_018668.4(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
NM_207118.2(GTF2H5):c.36-2A>G rs765378190

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