List of variants in gene DEFB118 reported 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
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_054112.3(DEFB118):c.148A>T (p.Asn50Tyr)	rs1401674202	0.00007
NM_054112.3(DEFB118):c.142T>C (p.Cys48Arg)	rs771947618	0.00003
NM_054112.3(DEFB118):c.365G>A (p.Ser122Asn)	rs189796554	0.00002
NM_054112.3(DEFB118):c.161G>T (p.Cys54Phe)	rs770422931	0.00001
NM_054112.3(DEFB118):c.161G>A (p.Cys54Tyr)	rs770422931
NM_054112.3(DEFB118):c.271A>G (p.Thr91Ala)	rs1166845924
NM_054112.3(DEFB118):c.329G>A (p.Arg110Lys)
NM_054112.3(DEFB118):c.355G>A (p.Val119Ile)
NM_054112.3(DEFB118):c.362A>G (p.His121Arg)
NM_054112.3(DEFB118):c.49G>C (p.Val17Leu)
NM_054112.3(DEFB118):c.53T>C (p.Ile18Thr)	rs2515189450

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