ClinVar Miner

List of variants in gene BLOC1S3 reported as uncertain significance for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_212550.4(BLOC1S3):c.*1253C>T rs576936281
NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*157A>G rs886054492
NM_212550.4(BLOC1S3):c.*1869G>A rs184044224
NM_212550.4(BLOC1S3):c.*31T>C rs777965410
NM_212550.4(BLOC1S3):c.*331T>A rs747825460
NM_212550.4(BLOC1S3):c.*389G>A rs117001334
NM_212550.4(BLOC1S3):c.*553A>T rs541332923
NM_212550.4(BLOC1S3):c.*69G>A rs886054491
NM_212550.4(BLOC1S3):c.-7C>G rs200767686
NM_212550.4(BLOC1S3):c.17G>A (p.Arg6His) rs145609489
NM_212550.4(BLOC1S3):c.205C>T (p.Pro69Ser) rs776029125
NM_212550.4(BLOC1S3):c.234G>A (p.Arg78=) rs886054489
NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) rs886054490
NM_212550.4(BLOC1S3):c.339G>A (p.Leu113=) rs546645333
NM_212550.4(BLOC1S3):c.366C>T (p.His122=) rs571269735
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372
NM_212550.4(BLOC1S3):c.507G>A (p.Ala169=) rs756965386
NM_212550.4(BLOC1S3):c.6G>T (p.Ala2=) rs746634818

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