ClinVar Miner

List of variants in gene AGL reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
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.2681+1G>A rs201201443 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.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3554del (p.Thr1185fs) rs764318570 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.1020del (p.Glu340fs) rs1651357012
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter) rs776977863
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs) rs1057516994
NM_000642.3(AGL):c.613A>T (p.Lys205Ter) rs562042076
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG

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