ClinVar Miner

List of variants in gene HPS4 reported as likely benign for Hermansky-Pudlak syndrome 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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NM_001349896.1(HPS4):c.-185A>G rs188205202
NM_001349896.1(HPS4):c.-395A>C rs147631281
NM_001349896.1(HPS4):c.-494T>G rs187762406
NM_001349896.1(HPS4):c.-570G>T rs753668169
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_152841.2(HPS4):c.*1253G>A rs534586940
NM_152841.2(HPS4):c.*751G>A rs190837977
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.1685C>T (p.Ala562Val) rs140234219
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.235A>G (p.Ile79Val) rs149830675
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745

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