ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu) rs144796570 0.00036
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 0.00006
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu) rs753355529 0.00006
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909 0.00002
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_006721.4(ADK):c.71A>T (p.Asn24Ile) rs1271395440 0.00001
NM_000170.3(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_001482.3(GATM):c.685A>G (p.Ile229Val) rs570670146
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser) rs1588612342

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