ClinVar Miner

List of variants in gene combination FANCA, LOC112486223, LOC130059839 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.(?_89767135)_(89816621_?)del
NC_000016.10:g.(?_89791402)_(89816615_?)del
NC_000016.10:g.(?_89810701)_(89816621_?)del
NC_000016.10:g.(?_89814514)_(89816621_?)del
NC_000016.10:g.89807755_89816658del
NC_000016.10:g.89809185_89816657del
NM_000135.2(FANCA):c.(?_-1)_522+?del
NM_000135.2(FANCA):c.(?_-42)_523-663del
NM_000135.2(FANCA):c.(?_-42)_523-828del

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