ClinVar Miner

List of variants in gene DTNBP1 reported as uncertain significance for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_001271667.1(DTNBP1):c.772_773AG[2] (p.Glu259fs) rs752074481
NM_032122.4(DTNBP1):c.*138A>G rs886061222
NM_032122.4(DTNBP1):c.*151_*152dup rs555440397
NM_032122.4(DTNBP1):c.*2T>C rs201409652
NM_032122.4(DTNBP1):c.-109G>A rs559661829
NM_032122.4(DTNBP1):c.-142G>A rs530331862
NM_032122.4(DTNBP1):c.-159G>A rs886061227
NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) rs886061223
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032122.4(DTNBP1):c.255G>T (p.Ala85=) rs200096549
NM_032122.4(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_032122.4(DTNBP1):c.355+10A>G rs368923800
NM_032122.4(DTNBP1):c.438A>G (p.Arg146=) rs369015562
NM_032122.4(DTNBP1):c.487A>C (p.Arg163=) rs146546977
NM_032122.4(DTNBP1):c.489-12_489-8del rs199770715
NM_032122.4(DTNBP1):c.489-21dup rs199770715
NM_032122.4(DTNBP1):c.489-8del rs199770715
NM_032122.4(DTNBP1):c.532G>T (p.Ala178Ser) rs75704383
NM_032122.4(DTNBP1):c.667+3G>A rs755341865
NM_032122.4(DTNBP1):c.668-14del rs886061225
NM_032122.4(DTNBP1):c.668-8A>G rs757305528
NM_032122.4(DTNBP1):c.741G>A (p.Ser247=) rs886061224
NM_032122.4(DTNBP1):c.812-13C>T rs377254012

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