ClinVar Miner

List of variants reported as likely pathogenic for Gaucher disease type I

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Total variants: 24
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HGVS dbSNP
NM_000157.3(GBA):c.1603C>T rs747506979
NM_000157.3(GBA):c.[1197G>T];[1603C>T]
NM_000157.3(GBA):c.[1448T>C];[167T>G]
NM_000157.3(GBA):c.[1448T>C];[407C>T]
NM_000157.4(GBA):c.1151C>T (p.Ser384Phe)
NM_000157.4(GBA):c.1177C>G (p.Leu393Val) rs878853315
NM_000157.4(GBA):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA):c.1214G>C (p.Ser405Thr)
NM_000157.4(GBA):c.1238A>C (p.His413Pro)
NM_000157.4(GBA):c.1240G>T (p.Val414Leu) rs398123528
NM_000157.4(GBA):c.1271T>C (p.Leu424Pro) rs772548282
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1343A>T (p.Asp448Val) rs77369218
NM_000157.4(GBA):c.1397T>G (p.Ile466Ser) rs878853320
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.1459G>A (p.Ala487Thr) rs878853317
NM_000157.4(GBA):c.1495G>C (p.Val499Leu) rs369068553
NM_000157.4(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_000157.4(GBA):c.415G>C (p.Ala139Pro) rs878853314
NM_000157.4(GBA):c.866G>C (p.Gly289Ala) rs878853321
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.914C>T (p.Pro305Leu)
NM_000179.2(MSH6):c.3822dup (p.Cys1275fs) rs1553333346

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