ClinVar Miner

List of variants in gene GATM reported as uncertain significance by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.701A>G (p.Asp234Gly) rs146057680 0.00022
NM_001482.3(GATM):c.160G>A (p.Asp54Asn) rs780777061 0.00017
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.156T>A (p.Ala52=) rs185569234 0.00004
NM_001482.3(GATM):c.279C>G (p.Ile93Met) rs192378417 0.00003
NM_001482.3(GATM):c.140G>A (p.Arg47Gln) rs777639154 0.00002
NM_001482.3(GATM):c.1105C>T (p.Arg369Cys) rs768118194 0.00001
NM_001482.3(GATM):c.603A>C (p.Lys201Asn) rs748600834 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001482.3(GATM):c.76C>G (p.Arg26Gly) rs1032267288 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001482.3(GATM):c.966A>T (p.Arg322=) rs1889443243 0.00001
NM_001482.3(GATM):c.967C>G (p.Pro323Ala) rs777371743 0.00001
GRCh37/hg19 15q21.1(chr15:45654063-45671785)x3
NM_001482.3(GATM):c.1151A>G (p.Glu384Gly) rs796052536
NM_001482.3(GATM):c.145T>C (p.Ser49Pro) rs796052537
NM_001482.3(GATM):c.269C>G (p.Pro90Arg) rs1261342154
NM_001482.3(GATM):c.275C>T (p.Thr92Ile) rs2140657134
NM_001482.3(GATM):c.420A>G (p.Thr140=) rs1163045526
NM_001482.3(GATM):c.519A>G (p.Ile173Met) rs796052534
NM_001482.3(GATM):c.592T>G (p.Ser198Ala) rs796052535
NM_001482.3(GATM):c.649A>G (p.Thr217Ala) rs1057524679
NM_001482.3(GATM):c.752C>T (p.Pro251Leu) rs1424827158
NM_001482.3(GATM):c.932T>C (p.Ile311Thr) rs1460902723
NM_001482.3(GATM):c.99G>A (p.Gln33=) rs2140657536

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