ClinVar Miner

List of variants in gene combination LOC130009810, RNASEH2B reported as uncertain significance for Aicardi-Goutieres syndrome 2

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln) rs988134864 0.00011
NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr) rs763103642 0.00007
NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu) rs1340493334 0.00006
NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp) rs1237024427 0.00004
NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937 0.00004
NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro) rs1161853513 0.00001
NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile) rs758877268 0.00001
NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu) rs1028530418 0.00001
NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)
NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn) rs1879259645
NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His) rs1879259645
NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)
NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)
NM_024570.4(RNASEH2B):c.64+3A>G

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