ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by GeneReviews

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs) rs281865111
NM_032383.5(HPS3):c.0_217+692del
nsv1067844

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