ClinVar Miner

List of variants studied for DNA ligase IV deficiency by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659 0.00034
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn) rs552242241 0.00004
NM_206937.2(LIG4):c.2460G>C (p.Leu820Phe) rs376493360 0.00001

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