ClinVar Miner

List of variants studied for DNA repair disease by Center for Individualized Medicine,Mayo Clinic

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs) rs797045115
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231

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