ClinVar Miner

List of variants reported as uncertain significance 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: 7
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
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.706C>T (p.Arg236Cys) rs147066269
NM_006846.3(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) rs1559412343
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338

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