List of variants in gene combination CP, HPS3 reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)	rs781373708	0.00011
NM_032383.5(HPS3):c.2509A>G (p.Ile837Val)	rs186872520	0.00005
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr)	rs776346762	0.00002
NM_032383.5(HPS3):c.2333T>C (p.Leu778Ser)	rs2473123819	0.00001
NM_032383.5(HPS3):c.2698C>T (p.Arg900Cys)	rs751160941	0.00001
NM_032383.5(HPS3):c.2846G>A (p.Cys949Tyr)	rs778588670	0.00001
NM_032383.5(HPS3):c.2983C>G (p.Leu995Val)	rs367699256	0.00001
NM_032383.5(HPS3):c.2987A>G (p.Tyr996Cys)	rs1209961720	0.00001
NM_032383.5(HPS3):c.2312A>G (p.Glu771Gly)
NM_032383.5(HPS3):c.2315A>G (p.Asp772Gly)	rs752917772
NM_032383.5(HPS3):c.2378T>A (p.Val793Glu)
NM_032383.5(HPS3):c.2639T>C (p.Leu880Ser)	rs1470297994
NM_032383.5(HPS3):c.2722A>G (p.Ile908Val)	rs1338969633
NM_032383.5(HPS3):c.2747C>T (p.Pro916Leu)	rs186659271
NM_032383.5(HPS3):c.2824G>A (p.Glu942Lys)
NM_032383.5(HPS3):c.2827C>G (p.Leu943Val)	rs753830955
NM_032383.5(HPS3):c.2938G>A (p.Val980Ile)	rs2472706921

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