ClinVar Miner

List of variants in gene AGL reported by OMIM

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
AGL, EcoRI FRAGMENT INS
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1999del (p.Gln667fs) rs387906246
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly) rs267606639
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg) rs118203964
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134

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