ClinVar Miner

List of variants in gene combination ATRIP, ATRIP-TREX1, TREX1 reported by Athena Diagnostics Inc

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser) rs113107733 0.00051
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro) rs112741962 0.00047
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_033629.6(TREX1):c.219G>A (p.Pro73=) rs778992418 0.00006
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser) rs986003279 0.00001
NM_130384.3(ATRIP):c.*966G>A rs1187994319

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