ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency 62 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)	rs142626656	0.00067
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val)	rs377630829	0.00001
NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser)

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