List of variants in gene GATM 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: 28

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.1252T>C (p.Leu418=)	rs1145086	0.55793
NM_001482.3(GATM):c.330A>T (p.Gln110His)	rs1288775	0.45330
NM_001482.3(GATM):c.669T>C (p.Tyr223=)	rs151231277	0.00163
NM_001482.3(GATM):c.407C>T (p.Thr136Met)	rs148564534	0.00063
NM_001482.3(GATM):c.701A>G (p.Asp234Gly)	rs146057680	0.00022
NM_001482.3(GATM):c.1041C>T (p.Asp347=)	rs139599307	0.00007
NM_001482.3(GATM):c.277A>G (p.Ile93Val)	rs34991226	0.00006
NM_001482.3(GATM):c.1043-3T>C	rs772985563	0.00004
NM_001482.3(GATM):c.1239G>A (p.Arg413=)	rs550159982	0.00003
NM_001482.3(GATM):c.644A>G (p.Lys215Arg)	rs759012962	0.00002
NM_001482.3(GATM):c.845G>A (p.Arg282His)	rs371447931	0.00002
NM_001482.3(GATM):c.104C>A (p.Thr35Asn)	rs1331986925	0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)	rs769023072	0.00001
NM_001482.3(GATM):c.625A>G (p.Lys209Glu)	rs1393968087	0.00001
NM_001482.3(GATM):c.814-3C>T	rs1262428448	0.00001
NM_001482.3(GATM):c.88G>A (p.Gly30Arg)	rs1245821498	0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr)	rs1334969328	0.00001
NM_001482.3(GATM):c.967C>G (p.Pro323Ala)	rs777371743	0.00001
NM_001482.3(GATM):c.1159G>C (p.Gly387Arg)	rs886051202
NM_001482.3(GATM):c.1212C>A (p.Gly404=)	rs1566838817
NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)	rs1566838768
NM_001482.3(GATM):c.128C>T (p.Thr43Met)	rs868522260
NM_001482.3(GATM):c.160G>C (p.Asp54His)	rs780777061
NM_001482.3(GATM):c.355C>G (p.His119Asp)	rs757696021
NM_001482.3(GATM):c.585G>A (p.Ala195=)	rs773913371
NM_001482.3(GATM):c.649A>G (p.Thr217Ala)	rs1057524679
NM_001482.3(GATM):c.736A>G (p.Thr246Ala)
NM_001482.3(GATM):c.984T>C (p.Asp328=)	rs1203613389

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