List of variants in gene SH2B3 studied for immune system disorder

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	rs3184504	0.66794
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)	rs72650673	0.00080
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)	rs202080221	0.00066
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	rs148636776	0.00025
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)	rs1029296641	0.00003
NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	rs376261237	0.00001
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)
NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs)	rs587776885
NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)	rs202080221
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)

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