ClinVar Miner

List of variants reported as benign for Aspartylglucosaminuria by Invitae

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291 0.00026
NM_000027.4(AGA):c.807-12dup rs749999445 0.00009
NM_000027.4(AGA):c.622+20G>T rs200102826 0.00007
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+10dup rs761207366
NM_000027.4(AGA):c.395-12del
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-11_623-10del
NM_000027.4(AGA):c.623-21dup rs745896951
NM_000027.4(AGA):c.806+13_806+16del rs369977700

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