ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1090G>A (p.Gly364Arg) rs121908305
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1289C>T (p.Pro430Leu)
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1389-33del
NM_000157.4(GBA):c.34C>T (p.Pro12Ser)
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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