List of variants reported as likely pathogenic for galactosemia by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	rs111033814	0.00003
NM_001008216.2(GALE):c.796-1G>T	rs779828095	0.00001
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	rs111033669
NM_000155.4(GALT):c.394C>T (p.His132Tyr)	rs111033688
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	rs111033718
NM_000155.4(GALT):c.957C>G (p.His319Gln)	rs111033792
NM_001008216.2(GALE):c.642+1G>A

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