List of variants reported as likely pathogenic for Deficiency of galactokinase by Counsyl

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)	rs371517491	0.00004
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)	rs1026685248
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)	rs771067891
NM_000154.2(GALK1):c.1A>C (p.Met1Leu)	rs1311294794
NM_000154.2(GALK1):c.410del (p.Gly137fs)	rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs)	rs767329054
NM_000154.2(GALK1):c.612-1G>A	rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs)	rs1555748534
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)	rs1555748940
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)	rs770087254
NM_000154.2(GALK1):c.944+1G>T	rs113464656

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