List of variants in gene ARG1 studied for amino acid metabolism disease

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000045.3(ARG1):c.-65C>T	rs17788484	0.03152
NM_000045.4(ARG1):c.57G>A (p.Gln19=)	rs150766204	0.00039
NM_000045.3(ARG1):c.-70A>G	rs192353153	0.00019
NM_000045.4(ARG1):c.-21A>C	rs370747314	0.00019
NM_000045.4(ARG1):c.22A>G (p.Ile8Val)	rs776185609	0.00014
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)	rs745624953	0.00002
NM_000045.4(ARG1):c.6C>T (p.Ser2=)	rs138584410	0.00002
NM_000045.4(ARG1):c.42T>A (p.Pro14=)	rs939256919	0.00001
NM_000045.4(ARG1):c.56A>T (p.Gln19Leu)	rs761148101	0.00001
NM_000045.4(ARG1):c.57+1G>A	rs587776539	0.00001
NM_000045.4(ARG1):c.14C>G (p.Ser5Cys)
NM_000045.4(ARG1):c.16A>G (p.Arg6Gly)	rs1190948767
NM_000045.4(ARG1):c.19A>C (p.Thr7Pro)	rs989204710
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)	rs149310631
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	rs1554249332
NM_000045.4(ARG1):c.30T>C (p.Ile10=)
NM_000045.4(ARG1):c.30del (p.Ile11fs)	rs1773467460
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	rs28941474
NM_000045.4(ARG1):c.42T>G (p.Pro14=)
NM_000045.4(ARG1):c.48A>C (p.Ser16=)	rs1585391263
NM_000045.4(ARG1):c.4A>G (p.Ser2Gly)
NM_000045.4(ARG1):c.50del (p.Lys17fs)	rs2114507395
NM_000045.4(ARG1):c.51G>C (p.Lys17Asn)
NM_000045.4(ARG1):c.54A>G (p.Gly18=)
NM_000045.4(ARG1):c.57+12A>G
NM_000045.4(ARG1):c.57+12A>T
NM_000045.4(ARG1):c.57+12del	rs757187110
NM_000045.4(ARG1):c.57+18dup
NM_000045.4(ARG1):c.57+1G>T
NM_000045.4(ARG1):c.57+20T>C
NM_000045.4(ARG1):c.57+2_57+6del	rs1288156431
NM_000045.4(ARG1):c.57+7A>G
NM_000045.4(ARG1):c.5G>T (p.Ser2Ile)
NM_000045.4(ARG1):c.7G>A (p.Ala3Thr)	rs558377642
NM_000045.4(ARG1):c.7G>C (p.Ala3Pro)	rs558377642
NM_000045.4(ARG1):c.9C>G (p.Ala3=)

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