ClinVar Miner

List of variants in gene ACE reported as uncertain significance for microvascular complications of diabetes, susceptibility

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.3108C>A (p.Asn1036Lys) rs142947404 0.00032
NM_000789.4(ACE):c.2299G>A (p.Glu767Lys) rs148995315 0.00019
NM_000789.4(ACE):c.2483T>C (p.Met828Thr) rs13306091 0.00012
NM_000789.4(ACE):c.2317G>A (p.Val773Met) rs143830698 0.00008
NM_000789.4(ACE):c.1915G>A (p.Gly639Ser) rs72845024 0.00007
NM_000789.4(ACE):c.1088C>T (p.Ala363Val) rs370491569 0.00006
NM_000789.4(ACE):c.1135C>T (p.Arg379Trp) rs750724647 0.00006
NM_000789.4(ACE):c.3163A>C (p.Met1055Leu) rs144926742 0.00006
NM_000789.4(ACE):c.1460G>A (p.Arg487His) rs376430907 0.00005
NM_000789.4(ACE):c.1227T>C (p.Arg409=) rs373568007 0.00004
NM_000789.4(ACE):c.1523G>A (p.Arg508Gln) rs746397573 0.00003
NM_000789.4(ACE):c.3061G>A (p.Val1021Met) rs764129854 0.00003
NM_000789.4(ACE):c.3226G>T (p.Val1076Leu) rs534480370 0.00003
NM_000789.4(ACE):c.3769G>A (p.Val1257Met) rs759857038 0.00003
NM_000789.4(ACE):c.1510C>T (p.Pro504Ser) rs778204413 0.00002
NM_000789.4(ACE):c.22C>T (p.Arg8Trp) rs1333116255 0.00002
NM_000789.4(ACE):c.2585G>A (p.Arg862His) rs756018518 0.00002
NM_000789.4(ACE):c.2090C>A (p.Thr697Asn) rs765315607 0.00001
NM_000789.4(ACE):c.2189C>A (p.Ala730Glu) rs767880620 0.00001
NM_000789.4(ACE):c.2857C>T (p.Arg953Trp) rs772888815 0.00001
NM_000789.4(ACE):c.3038G>C (p.Gly1013Ala) rs540734174 0.00001
NM_000789.4(ACE):c.3090G>T (p.Lys1030Asn) rs374679629 0.00001
NM_000789.4(ACE):c.447G>C (p.Arg149Ser) rs766945182 0.00001
NM_000789.4(ACE):c.590G>A (p.Gly197Asp) rs753361228 0.00001
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
NM_000789.4(ACE):c.2570G>A (p.Arg857His) rs146089353
NM_000789.4(ACE):c.2739+5G>A rs774239045
NM_000789.4(ACE):c.3538_3539delinsGT (p.Pro1180Val) rs1568048955
NM_000789.4(ACE):c.3695G>A (p.Arg1232His) rs372282664
NM_000789.4(ACE):c.383G>A (p.Gly128Asp) rs767085054
NM_000789.4(ACE):c.44CGCTGC[1] (p.15PL[1]) rs532691783

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