ClinVar Miner

List of variants in gene SUZ12 studied for Inborn genetic diseases

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015355.4(SUZ12):c.133A>G (p.Ser45Gly) rs757822745 0.00023
NM_015355.4(SUZ12):c.250G>A (p.Glu84Lys) rs933237275 0.00015
NM_015355.4(SUZ12):c.101C>G (p.Ala34Gly) rs561217691 0.00014
NM_015355.4(SUZ12):c.119A>G (p.Lys40Arg) rs1032353170 0.00005
NM_015355.4(SUZ12):c.110C>T (p.Ser37Leu) rs1316496668 0.00003
NM_015355.4(SUZ12):c.1372C>T (p.Arg458Cys) rs372771855 0.00003
NM_015355.4(SUZ12):c.151A>G (p.Ser51Gly) rs991089457 0.00003
NM_015355.4(SUZ12):c.170C>T (p.Ser57Phe) rs1159062569 0.00002
NM_015355.4(SUZ12):c.2168A>G (p.Glu723Gly) rs749728756 0.00002
NM_015355.4(SUZ12):c.1072A>G (p.Thr358Ala) rs775679142 0.00001
NM_015355.4(SUZ12):c.1223C>G (p.Thr408Arg) rs748955039 0.00001
NM_015355.4(SUZ12):c.692C>G (p.Ala231Gly) rs767107702 0.00001
NM_015355.4(SUZ12):c.812A>G (p.Asn271Ser) rs747299817 0.00001
NM_015355.4(SUZ12):c.89C>T (p.Ala30Val) rs1284405136 0.00001
NM_015355.4(SUZ12):c.1098T>G (p.Asn366Lys) rs2508662139
NM_015355.4(SUZ12):c.125G>A (p.Gly42Asp)
NM_015355.4(SUZ12):c.140G>C (p.Gly47Ala) rs1905998196
NM_015355.4(SUZ12):c.143G>A (p.Gly48Glu) rs767563724
NM_015355.4(SUZ12):c.1471A>G (p.Ile491Val)
NM_015355.4(SUZ12):c.1496A>G (p.Tyr499Cys)
NM_015355.4(SUZ12):c.1571C>A (p.Pro524His)
NM_015355.4(SUZ12):c.1585C>T (p.Leu529Phe) rs2508681998
NM_015355.4(SUZ12):c.1794+6T>A rs2508685329
NM_015355.4(SUZ12):c.2032G>A (p.Val678Ile) rs2508694303
NM_015355.4(SUZ12):c.2036C>A (p.Thr679Asn)
NM_015355.4(SUZ12):c.2072G>A (p.Gly691Glu) rs1272910292
NM_015355.4(SUZ12):c.211G>T (p.Val71Leu)
NM_015355.4(SUZ12):c.353T>C (p.Met118Thr)
NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter) rs750383066
NM_015355.4(SUZ12):c.392C>G (p.Thr131Arg)
NM_015355.4(SUZ12):c.431T>C (p.Met144Thr) rs1024318383
NM_015355.4(SUZ12):c.439G>C (p.Glu147Gln)
NM_015355.4(SUZ12):c.588_591del (p.Lys197fs)
NM_015355.4(SUZ12):c.728A>G (p.His243Arg) rs1442341116
NM_015355.4(SUZ12):c.812A>T (p.Asn271Ile) rs747299817
NM_015355.4(SUZ12):c.859A>G (p.Asn287Asp)
NM_015355.4(SUZ12):c.85G>C (p.Ala29Pro)
NM_015355.4(SUZ12):c.863G>A (p.Arg288His)
NM_015355.4(SUZ12):c.865G>A (p.Glu289Lys) rs2508632143
NM_015355.4(SUZ12):c.86C>T (p.Ala29Val)

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