ClinVar Miner

List of variants in gene AGA reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000027.4(AGA):c.*183A>C rs1061814
NM_000027.4(AGA):c.*882A>C
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.622+13T>C rs75260482
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-21dup
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061

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