List of variants in gene INSL6, JAK2 studied for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	rs41316003	0.00500
NM_004972.4(JAK2):c.1641+6T>C	rs182123615	0.00109
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)	rs56118985	0.00048
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_004972.4(JAK2):c.2571+5A>C	rs775085241	0.00004
NM_004972.4(JAK2):c.1414A>G (p.Ser472Gly)
NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)	rs368927897
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr)	rs2130546358
NM_004972.4(JAK2):c.1821G>C (p.Lys607Asn)	rs121912472
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly)	rs1057519721
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn)	rs1057520016

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