ClinVar Miner

List of variants in gene combination INF2, LOC130056630 reported as uncertain significance for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NM_022489.4(INF2):c.1949+1G>A

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