List of variants in gene HPS6 reported as pathogenic for blood coagulation disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.1114C>T (p.Arg372Ter)	rs776754431	0.00001
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.779G>A (p.Gly260Glu)	rs1478574193	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.1624del (p.Asp542fs)	rs1590263807
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.1942C>T (p.Gln648Ter)
NM_024747.6(HPS6):c.455C>G (p.Ser152Ter)
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile)	rs281865109
NM_024747.6(HPS6):c.913C>T (p.Gln305Ter)	rs281865110

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