ClinVar Miner

List of variants reported as benign for ALG6-congenital disorder of glycosylation 1C

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_013339.4(ALG6):c.*761T>C rs3009572 0.60547
NM_013339.4(ALG6):c.494+74A>G rs6588028 0.59605
NM_013339.4(ALG6):c.347-107A>G rs1012872 0.35371
NM_013339.4(ALG6):c.-136C>G rs34542411 0.20075
NM_013339.4(ALG6):c.430-133T>C rs12755065 0.17545
NM_013339.4(ALG6):c.1058+111T>G rs4550089 0.16438
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_013339.4(ALG6):c.*1322A>G rs75309742 0.04045
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_013339.4(ALG6):c.*844T>C rs2884922 0.02393
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974 0.00044
NM_013339.4(ALG6):c.903-13A>G rs190744579 0.00013
NM_013339.4(ALG6):c.168-17C>G rs536808870 0.00002
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.987+12A>G rs758406155 0.00001
NM_013339.4(ALG6):c.1327-9dup rs1236127359
NM_013339.4(ALG6):c.257+10del
NM_013339.4(ALG6):c.346+6dup
NM_013339.4(ALG6):c.681-3del rs763183173
NM_013339.4(ALG6):c.988-14del
NM_013339.4(ALG6):c.988-8dup rs779365053

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