ClinVar Miner

List of variants reported as uncertain significance for autosomal ichthyosis syndrome by Fulgent Genetics,Fulgent Genetics

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_000122.1(ERCC3):c.847C>T (p.Arg283Cys) rs145201970
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_018668.4(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364
NM_022067.4(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233

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