ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome by Counsyl

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963

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