ClinVar Miner

List of variants reported as likely benign for autosomal ichthyosis syndrome by Natera, Inc.

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln) rs144190241
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=) rs61757681
NM_182760.4(SUMF1):c.239T>A (p.Val80Glu)
NM_182760.4(SUMF1):c.28T>C (p.Cys10Arg)
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182760.4(SUMF1):c.722A>G (p.Asn241Ser) rs138045351
NM_182760.4(SUMF1):c.825C>T (p.Phe275=) rs780668525
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187

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