ClinVar Miner

List of variants in gene HPS6 reported as pathogenic for Hermansky-Pudlak syndrome 6

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter) rs281865112 0.00001
NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333 0.00001
NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter) rs2067971306
NM_024747.6(HPS6):c.1065dup (p.Leu356fs) rs1564899492
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
NM_024747.6(HPS6):c.1865_1866del (p.Leu622fs) rs281865114
NM_024747.6(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter) rs281865110

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