List of variants in gene JAK1 reported as not provided by ITMI

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys)	rs61735631	0.00068
NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser)	rs187043211	0.00041
NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp)	rs200049537	0.00014
NM_002227.4(JAK1):c.2469C>T (p.Leu823=)	rs560585690	0.00002
NM_002227.4(JAK1):c.2234C>T (p.Thr745Met)	rs587778407	0.00001
NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln)	rs200563303	0.00001
NM_002227.4(JAK1):c.2749A>G (p.Asn917Asp)	rs539218457

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