ClinVar Miner

List of variants in gene GATM, LOC130056991 studied for Arginine:glycine amidinotransferase deficiency

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001482.2(GATM):c.-200C>T rs7164139 0.31090
NM_001482.3(GATM):c.-30T>G rs8024550 0.11642
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_001482.3(GATM):c.61G>A (p.Gly21Arg) rs903485357 0.00005
NM_001482.3(GATM):c.57C>T (p.Tyr19=) rs1052590218 0.00004
NM_001482.3(GATM):c.30G>T (p.Gly10=) rs929095379 0.00001
NM_001482.3(GATM):c.48G>T (p.Ala16=) rs587780951 0.00001
NM_001482.3(GATM):c.60C>G (p.Ile20Met) rs1000621646 0.00001
NM_001482.3(GATM):c.67C>T (p.Arg23Trp) rs1240389133 0.00001
NM_001482.3(GATM):c.7C>G (p.Arg3Gly) rs796052538 0.00001
NM_001482.3(GATM):c.9G>A (p.Arg3=) rs1471775361 0.00001
NM_001482.2(GATM):c.-171T>C rs886051204
NM_001482.3(GATM):c.-72C>T rs886051203
NM_001482.3(GATM):c.10G>A (p.Val4Met)
NM_001482.3(GATM):c.10G>C (p.Val4Leu)
NM_001482.3(GATM):c.14G>T (p.Arg5Leu)
NM_001482.3(GATM):c.18T>C (p.Cys6=)
NM_001482.3(GATM):c.23G>A (p.Arg8His) rs1889681963
NM_001482.3(GATM):c.26G>A (p.Gly9Asp)
NM_001482.3(GATM):c.30G>A (p.Gly10=)
NM_001482.3(GATM):c.30G>C (p.Gly10=)
NM_001482.3(GATM):c.32G>C (p.Ser11Thr)
NM_001482.3(GATM):c.36C>T (p.Arg12=)
NM_001482.3(GATM):c.37G>A (p.Gly13Ser) rs1566843333
NM_001482.3(GATM):c.39C>A (p.Gly13=)
NM_001482.3(GATM):c.41_48dup (p.Val17fs)
NM_001482.3(GATM):c.42C>G (p.Ala14=) rs892312757
NM_001482.3(GATM):c.48G>A (p.Ala16=) rs587780951
NM_001482.3(GATM):c.49G>T (p.Val17Leu)
NM_001482.3(GATM):c.4C>G (p.Leu2Val)
NM_001482.3(GATM):c.51G>A (p.Val17=)
NM_001482.3(GATM):c.56A>G (p.Tyr19Cys)
NM_001482.3(GATM):c.5_33del (p.Leu2fs)
NM_001482.3(GATM):c.60C>T (p.Ile20=)
NM_001482.3(GATM):c.63A>T (p.Gly21=)
NM_001482.3(GATM):c.68G>C (p.Arg23Pro) rs370155767
NM_001482.3(GATM):c.69+10C>T
NM_001482.3(GATM):c.69+13C>G
NM_001482.3(GATM):c.69+14C>G
NM_001482.3(GATM):c.69+14C>T
NM_001482.3(GATM):c.69+15G>A
NM_001482.3(GATM):c.69+15G>T
NM_001482.3(GATM):c.69+17C>G
NM_001482.3(GATM):c.69+17C>T
NM_001482.3(GATM):c.69+1G>A
NM_001482.3(GATM):c.69+20C>A
NM_001482.3(GATM):c.69+20C>T
NM_001482.3(GATM):c.69+4C>T
NM_001482.3(GATM):c.69+5G>A
NM_001482.3(GATM):c.69+8C>G rs1044785525
NM_001482.3(GATM):c.69+8C>T rs1044785525

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