ClinVar Miner

List of variants studied for lymphoid system disorder by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2374-1G>A rs2145381556
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp) rs727502904

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