List of variants in gene combination CP, HPS3 reported as uncertain significance by Illumina Laboratory Services, Illumina

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_032383.5(HPS3):c.*135T>C	rs375383865	0.01150
NM_000096.4(CP):c.*509A>C	rs13098532	0.00867
NM_000096.4(CP):c.*1081T>A	rs188137938	0.00174
NM_000096.4(CP):c.*40C>T	rs112764171	0.00157
NM_032383.5(HPS3):c.*98A>T	rs113951847	0.00140
NM_032383.5(HPS3):c.*96T>A	rs879086473	0.00060
NM_032383.5(HPS3):c.*95A>C	rs1013031553	0.00043
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)	rs144099522	0.00038
NM_032383.5(HPS3):c.*96TC[3]	rs1553756780	0.00035
NM_000096.4(CP):c.*373C>G	rs370247691	0.00034
NM_000096.4(CP):c.*912C>G	rs149920453	0.00013
NM_000096.4(CP):c.*572A>G	rs561191589	0.00011
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)	rs781373708	0.00011
NM_000096.4(CP):c.*343A>G	rs886058085	0.00001
NM_032383.5(HPS3):c.*207C>T	rs1725097839	0.00001
NM_032383.5(HPS3):c.*239G>A	rs886058083	0.00001
NM_032383.5(HPS3):c.2699G>A (p.Arg900His)	rs202157837	0.00001
NM_000096.4(CP):c.*1007T>A	rs36120450
NM_000096.4(CP):c.*373C>T	rs370247691
NM_000096.4(CP):c.*536G>C	rs1725167347
NM_000096.4(CP):c.*583T>C	rs886058084
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)	rs749381794
NM_032383.5(HPS3):c.129_130insGC	rs886058082
NM_032383.5(HPS3):c.*138A>T	rs1049481742
NM_032383.5(HPS3):c.96_97insATCACA	rs374839757
NM_032383.5(HPS3):c.*97CA[16]	rs113015797
NM_032383.5(HPS3):c.*97CA[17]	rs113015797
NM_032383.5(HPS3):c.*97CA[20]	rs113015797
NM_032383.5(HPS3):c.*97CA[21]	rs113015797
NM_032383.5(HPS3):c.*97CA[22]	rs113015797
NM_032383.5(HPS3):c.*97CA[23]	rs113015797
NM_032383.5(HPS3):c.*97CA[25]	rs113015797
NM_032383.5(HPS3):c.97_98insTCACAC	rs72453449
NM_032383.5(HPS3):c.97_98insTCACACAC	rs72453449
NM_032383.5(HPS3):c.97_98insTCACACACAC	rs72453449
NM_032383.5(HPS3):c.97_98insTCTCACAC	rs72453449
NM_032383.5(HPS3):c.2658C>T (p.Asp886=)	rs141916243
NM_032383.5(HPS3):c.2887+8G>T	rs781312506

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