ClinVar Miner

List of variants in gene GALM studied for galactosemia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_138801.3(GALM):c.568A>T (p.Asn190Tyr) rs6741892 0.13096
NM_138801.3(GALM):c.424G>A (p.Gly142Arg) rs114440198 0.00194
NM_138801.3(GALM):c.661_663del (p.Ala221del) rs1666556107 0.00001
NM_138801.3(GALM):c.932G>A (p.Trp311Ter) rs767153310 0.00001
NM_138801.3(GALM):c.244C>T (p.Arg82Ter) rs115413295
NM_138801.3(GALM):c.294del (p.Ile99fs) rs751902026
NM_138801.3(GALM):c.799C>G (p.Arg267Gly) rs1229797646

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