ClinVar Miner

List of variants in gene combination GBA, LOC106627981 reported as pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1049A>G (p.His350Arg) rs78198234
NM_000157.4(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA):c.1289C>T (p.Pro430Leu)
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1309G>T (p.Val437Phe) rs121908310
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1506-1G>A rs1571964338
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.4(GBA):c.476G>A (p.Arg159Gln) rs79653797
NM_000157.4(GBA):c.509G>T (p.Arg170Leu) rs80356763
NM_000157.4(GBA):c.533del (p.Pro178fs) rs397518434
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000157.4(GBA):c.870C>A (p.Phe290Leu) rs121908313
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_001005741.2(GBA):c.[1448T>C;1483G>C;1497G>C]

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