ClinVar Miner

List of variants reported as likely pathogenic for classic galactosemia by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000155.4(GALT):c.688-2A>C rs398123185 0.00002
NM_000155.4(GALT):c.142C>T (p.Arg48Cys) rs886042088 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802 0.00001
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.133T>C (p.Ser45Pro) rs2132341560
NM_000155.4(GALT):c.134C>T (p.Ser45Leu) rs111033652
NM_000155.4(GALT):c.241G>A (p.Ala81Thr) rs111033665
NM_000155.4(GALT):c.289A>G (p.Asn97Asp) rs1564100957
NM_000155.4(GALT):c.328+2T>G
NM_000155.4(GALT):c.378-2A>G rs1554709280
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.403T>G (p.Ser135Ala) rs2132343082
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
NM_000155.4(GALT):c.499T>C (p.Trp167Arg) rs111033708
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.550C>G (p.His184Asp) rs111033716
NM_000155.4(GALT):c.556C>A (p.His186Asn) rs111033725
NM_000155.4(GALT):c.557A>G (p.His186Arg)
NM_000155.4(GALT):c.558C>A (p.His186Gln) rs886042097
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.604G>A (p.Glu202Lys) rs2132344159
NM_000155.4(GALT):c.608A>G (p.Glu203Gly) rs2132344172
NM_000155.4(GALT):c.611G>C (p.Arg204Pro) rs111033740
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp) rs2132344222
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000155.4(GALT):c.668G>A (p.Arg223His)
NM_000155.4(GALT):c.688-1G>C rs1821175162
NM_000155.4(GALT):c.691C>G (p.Arg231Gly) rs111033749
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
NM_000155.4(GALT):c.82+2del rs794726876
NM_000155.4(GALT):c.821-1del rs2132345349
NM_000155.4(GALT):c.835A>G (p.Met279Val)
NM_000155.4(GALT):c.836T>G (p.Met279Arg) rs111033779
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
NM_000155.4(GALT):c.86A>G (p.His29Arg) rs2132341442
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr) rs111033781
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
NM_000155.4(GALT):c.892A>G (p.Met298Val) rs1821187430
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
NM_000155.4(GALT):c.905-2A>G rs398123187
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
NM_000155.4(GALT):c.910C>T (p.Pro304Ser) rs2132346162
NM_000155.4(GALT):c.91C>A (p.His31Asn) rs111033643
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
NM_000155.4(GALT):c.980T>C (p.Leu327Pro) rs111033832
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829

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