ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome by Natera, Inc.

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=) rs201390270
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=) rs1555532936
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.211T>C (p.Ser71Pro) rs201984297
NM_182760.4(SUMF1):c.237C>G (p.Pro79=) rs11555132
NM_182760.4(SUMF1):c.626T>C (p.Val209Ala)
NM_182760.4(SUMF1):c.627G>C (p.Val209=) rs748118171
NM_182760.4(SUMF1):c.715C>T (p.Leu239=) rs779864102
NM_182760.4(SUMF1):c.803C>T (p.Thr268Ile)

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