List of variants reported as pathogenic for Krabbe disease by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)	rs199847983	0.00002
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)	rs387906952	0.00001
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)	rs748573754	0.00001
NC_000014.9:g.87925163_87956828del
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter)	rs121908010
NM_000153.4(GALC):c.121G>A (p.Gly41Ser)	rs387906955
NM_000153.4(GALC):c.1489+1G>A	rs2139956292
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser)	rs387906953
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)	rs1555378534
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)	rs387906954
NM_002778.4(PSAP):c.207_209del (p.Val70del)	rs757687480
NM_002778.4(PSAP):c.209T>G (p.Val70Gly)	rs2133049150
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn)	rs1554881272

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