ClinVar Miner

List of variants in gene ALG6 reported as likely benign for not specified

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Total variants: 24
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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.981T>C (p.Phe327=) rs75451833 0.04164
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
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.-207-12T>C rs183861757 0.00186
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.963T>A (p.Ser321=) rs141511876 0.00024
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.669C>T (p.Leu223=) rs377089305 0.00003
NM_013339.4(ALG6):c.902+19G>A rs1057522483 0.00002
NM_013339.4(ALG6):c.-196A>G rs924330655 0.00001
NM_013339.4(ALG6):c.1128-18A>T rs1057523181 0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.258-15T>C rs1427230309 0.00001
NM_013339.4(ALG6):c.987+12A>G rs758406155 0.00001
NM_013339.4(ALG6):c.-207-9dup rs1255831719
NM_013339.4(ALG6):c.1005A>C (p.Ser335=) rs146094200
NM_013339.4(ALG6):c.1059-8G>A rs755900020
NM_013339.4(ALG6):c.1443C>T (p.Asn481=) rs1057524080
NM_013339.4(ALG6):c.346+10C>A rs1553155425
NM_013339.4(ALG6):c.988-14dup rs757939381

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