ClinVar Miner

List of variants studied for galactosemia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000154.2(GALK1):c.1083_1092del (p.Pro362fs)
NM_000154.2(GALK1):c.1096del (p.Arg366fs)

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