List of variants in gene GALC reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.525C>T (p.Val175=)	rs181066089	0.00199
NM_000153.4(GALC):c.-327G>T	rs185943390	0.00120
NM_000153.2(GALC):c.-223C>T	rs181004720	0.00076
NM_000153.4(GALC):c.-67T>G	rs571945132	0.00070
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)	rs200516260	0.00009
NM_000153.4(GALC):c.1803A>G (p.Ala601=)	rs372465848	0.00009
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)	rs778447883	0.00004
NM_000153.4(GALC):c.788C>G (p.Ala263Gly)	rs1292976689	0.00003
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)	rs1289015582
NM_000153.4(GALC):c.328+3A>G	rs377682096
NM_000153.4(GALC):c.49A>C (p.Met17Leu)	rs376662045
NM_000153.4(GALC):c.709A>G (p.Met237Val)

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