ClinVar Miner

List of variants reported as benign for ALG12-congenital disorder of glycosylation by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963 0.35815
NM_024105.4(ALG12):c.664+9G>C rs9616368 0.23975
NM_024105.4(ALG12):c.664+12A>G rs9616204 0.23839
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872 0.09407
NM_024105.4(ALG12):c.163-19C>A rs11705497 0.07946
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654 0.04368
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155 0.02709
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_024105.4(ALG12):c.768+17G>A rs145358718 0.00827
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00818
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00547
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_024105.4(ALG12):c.1163-19G>A rs200745798 0.00396
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_024105.4(ALG12):c.1155C>T (p.Pro385=) rs113652023 0.00282
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730 0.00199
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848 0.00184
NM_024105.4(ALG12):c.768+16C>T rs558809803 0.00083
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163 0.00057
NM_024105.4(ALG12):c.465T>C (p.Pro155=) rs201564211 0.00037
NM_024105.4(ALG12):c.469+14G>A rs76905919 0.00023
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740 0.00011
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842 0.00006
NM_024105.4(ALG12):c.993-19G>A rs185216992 0.00004
NM_024105.4(ALG12):c.406A>G (p.Met136Val) rs753278650 0.00002
NM_024105.4(ALG12):c.1047C>G (p.Ile349Met) rs182006999
NM_024105.4(ALG12):c.162+12del rs750862845

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