ClinVar Miner

List of variants in gene GALT reported as uncertain significance for not specified

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_000155.4(GALT):c.253-5G>A rs762136953 0.00026
NM_000155.3(GALT):c.-739C>T rs778861821 0.00022
NM_000155.3(GALT):c.-121C>G rs368046870 0.00021
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00014
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000155.4(GALT):c.44C>T (p.Ser15Leu) rs759270191 0.00004
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895 0.00003
NM_000155.3(GALT):c.-392A>T rs924095458 0.00002
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.469G>A (p.Val157Ile) rs1173928130 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 0.00001
NM_000155.4(GALT):c.632G>C (p.Ser211Thr) rs3824553 0.00001
NM_000155.4(GALT):c.82+13C>T rs776194301 0.00001
NM_000155.4(GALT):c.82+15G>A rs752065555 0.00001
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.-839_-837delTTT rs549043849
NM_000155.4(GALT):c.1022T>C (p.Met341Thr) rs1248681332
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1060-71dup rs56121779
NM_000155.4(GALT):c.1070_1071del (p.Arg357fs) rs1554709579
NM_000155.4(GALT):c.1094A>G (p.His365Arg) rs1821228599
NM_000155.4(GALT):c.285T>G (p.Phe95Leu) rs111033668
NM_000155.4(GALT):c.313G>A (p.Asp105Asn) rs1564100971
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.502_504del (p.Val168del) rs1219976432
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.688-12_688-11del rs777929860
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del) rs111033762
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
NM_000155.4(GALT):c.820+18G>A rs1564101965
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) rs111033778
NM_000155.4(GALT):c.904+3G>T rs1554709450
NM_000155.4(GALT):c.904+7C>A rs1564102104

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