ClinVar Miner

List of variants in gene INF2, LOC130056630 studied for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.1949+16A>G rs11850821 0.21385
NM_022489.4(INF2):c.1949+18C>T rs1484348980 0.00003
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.1949+10G>A rs1342614480
NM_022489.4(INF2):c.1949+7G>A rs757853615

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