ClinVar Miner

List of variants studied for Combined immunodeficiency due to GINS1 deficiency by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	rs137901350	0.00066
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)	rs376610445	0.00001
NM_021067.5(GINS1):c.-48C>G	rs974304393
NM_021067.5(GINS1):c.-60A>G	rs2146178281

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