ClinVar Miner

List of variants in gene AGBL4 studied for not specified

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_032785.4(AGBL4):c.215C>T (p.Pro72Leu) rs373937114 0.00078
NM_032785.4(AGBL4):c.646G>A (p.Glu216Lys) rs201991102 0.00062
NM_032785.4(AGBL4):c.232C>T (p.Arg78Cys) rs369139471 0.00018
NM_032785.4(AGBL4):c.1014G>A (p.Met338Ile) rs201706593 0.00015
NM_032785.4(AGBL4):c.728T>C (p.Ile243Thr) rs375321264 0.00015
NM_032785.4(AGBL4):c.1435C>A (p.Pro479Thr) rs748376932 0.00011
NM_032785.4(AGBL4):c.1042C>T (p.Arg348Trp) rs376731078 0.00007
NM_032785.4(AGBL4):c.1043G>A (p.Arg348Gln) rs899125154 0.00005
NM_032785.4(AGBL4):c.1316G>A (p.Arg439Gln) rs956099366 0.00005
NM_032785.4(AGBL4):c.1024A>G (p.Ile342Val) rs369243059 0.00003
NM_032785.4(AGBL4):c.1123C>T (p.Arg375Trp) rs753216988 0.00001
NM_032785.4(AGBL4):c.1439C>T (p.Ala480Val) rs774502535 0.00001
NM_032785.4(AGBL4):c.1462G>A (p.Gly488Arg) rs1250930230 0.00001
NM_032785.4(AGBL4):c.1465G>A (p.Asp489Asn) rs201412334 0.00001
NM_032785.4(AGBL4):c.773G>A (p.Arg258Gln) rs544951425 0.00001
NM_032785.4(AGBL4):c.791A>G (p.Lys264Arg) rs764317600 0.00001
NM_032785.4(AGBL4):c.931G>T (p.Val311Phe) rs771499735 0.00001
NM_032785.4(AGBL4):c.98C>A (p.Thr33Asn) rs1274264883 0.00001
GRCh37/hg19 1p33(chr1:50250602-50400110)x1
NM_032785.4(AGBL4):c.1070A>G (p.Lys357Arg)
NM_032785.4(AGBL4):c.109G>A (p.Gly37Arg)
NM_032785.4(AGBL4):c.1109G>A (p.Ser370Asn)
NM_032785.4(AGBL4):c.1153C>G (p.Arg385Gly) rs555192599
NM_032785.4(AGBL4):c.1174G>A (p.Asp392Asn) rs1569896210
NM_032785.4(AGBL4):c.1225A>C (p.Ile409Leu)
NM_032785.4(AGBL4):c.1367A>G (p.Asn456Ser)
NM_032785.4(AGBL4):c.1388G>A (p.Arg463Lys)
NM_032785.4(AGBL4):c.1430G>A (p.Arg477Gln) rs1045280598
NM_032785.4(AGBL4):c.18G>C (p.Gln6His)
NM_032785.4(AGBL4):c.196T>C (p.Tyr66His)
NM_032785.4(AGBL4):c.208A>G (p.Ile70Val)
NM_032785.4(AGBL4):c.220A>C (p.Thr74Pro) rs1335956437
NM_032785.4(AGBL4):c.392C>A (p.Pro131His)
NM_032785.4(AGBL4):c.486G>T (p.Gln162His) rs1443868857
NM_032785.4(AGBL4):c.607C>T (p.Leu203Phe) rs1648189824
NM_032785.4(AGBL4):c.76A>G (p.Ser26Gly)
NM_032785.4(AGBL4):c.808A>T (p.Asn270Tyr) rs765165380
NM_032785.4(AGBL4):c.876G>T (p.Trp292Cys)
NM_032785.4(AGBL4):c.960C>A (p.Ser320Arg)
NM_032785.4(AGBL4):c.98C>G (p.Thr33Ser)

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