ClinVar Miner

List of variants reported as likely pathogenic for Krabbe disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448 0.00003
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316 0.00002
NM_000153.4(GALC):c.582+1G>A rs750881596 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1834+1G>A
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
NM_000153.4(GALC):c.349A>T (p.Met117Leu) rs145580093
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378

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