ClinVar Miner

List of variants studied for immune system disorder by HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP)

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NG_009830.1:g.(41245_49339)_(137044_147250)dup
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000135.4(FANCA):c.2317-30_2317-1del

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