ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by GeneReviews

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000288.4(PEX7):c.-45C>T rs267608252
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys) rs137852852
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg) rs1057517363
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val) rs387906976
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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