ClinVar Miner

List of variants reported as uncertain significance for Oculodentodigital dysplasia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.*214G>A rs549064986 0.00212
NM_000165.5(GJA1):c.*285A>T rs72548748 0.00040
NM_000165.5(GJA1):c.*1252A>G rs976353489 0.00029
NM_000165.5(GJA1):c.*521G>C rs1270925038 0.00022
NM_000165.5(GJA1):c.*926A>T rs765290352 0.00015
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00015
NM_000165.5(GJA1):c.*1077T>C rs528853645 0.00013
NM_000165.5(GJA1):c.*444A>G rs919415571 0.00011
NM_000165.5(GJA1):c.*1334T>C rs749953074 0.00010
NM_000165.5(GJA1):c.*191G>A rs886061012 0.00009
NM_000165.5(GJA1):c.-161G>T rs764033415 0.00007
NM_000165.5(GJA1):c.*1143T>G rs765423162 0.00003
NM_000165.5(GJA1):c.*538G>A rs886061014 0.00002
NM_000165.5(GJA1):c.-197T>G rs1387189062 0.00002
NM_000165.5(GJA1):c.-87C>T rs1263521795 0.00002
NM_000165.5(GJA1):c.*635C>T rs886061015 0.00001
NM_000165.5(GJA1):c.*916_*918del rs886061018 0.00001
NM_000165.5(GJA1):c.-188G>T rs886061008 0.00001
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) rs772121642 0.00001
NM_000165.5(GJA1):c.270C>G (p.Leu90=) rs886061009 0.00001
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu) rs750243405 0.00001
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr) rs143026885 0.00001
NM_000165.5(GJA1):c.860A>G (p.Lys287Arg) rs555927773 0.00001
NM_000165.5(GJA1):c.*1020_*1021del rs375943953
NM_000165.5(GJA1):c.*1043T>C rs886061021
NM_000165.5(GJA1):c.*1101T>C rs886061022
NM_000165.5(GJA1):c.*1204A>G rs1773943656
NM_000165.5(GJA1):c.*163G>A rs886061011
NM_000165.5(GJA1):c.*212A>T rs1408036306
NM_000165.5(GJA1):c.*301C>T rs72548749
NM_000165.5(GJA1):c.*47A>G rs886061010
NM_000165.5(GJA1):c.*529C>G rs886061013
NM_000165.5(GJA1):c.*694T>C rs886061016
NM_000165.5(GJA1):c.*750G>A rs1773934302
NM_000165.5(GJA1):c.*773del rs397698276
NM_000165.5(GJA1):c.*832C>G rs773394030
NM_000165.5(GJA1):c.*888C>A rs1329687638
NM_000165.5(GJA1):c.*992G>A rs903940354
NM_000165.5(GJA1):c.129A>G (p.Ser43=) rs749135596
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro) rs1773914179
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr) rs1773914309

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