RS111033665 GALT
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What This Variant Does
"CLNSIG=255
Associated Conditions
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Population Frequencies
gnomAD ALL
100%
Other Variants in GALT