ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Mendelics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met) rs765311079
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964

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