ClinVar Miner

List of variants in gene combination LOC117038795, RNASEH2A reported as uncertain significance for Aicardi-Goutieres syndrome 4

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.-49C>T rs375281767 0.00146
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln) rs770044946 0.00010
NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=) rs762363861 0.00006
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly) rs762516714 0.00001
NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp) rs11554405 0.00001
NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro) rs1482633002 0.00001
NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile) rs373265362 0.00001
NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser) rs779298565 0.00001
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala) rs1039519462 0.00001
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly) rs1489973272 0.00001
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val) rs768625813 0.00001
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys) rs546042666 0.00001
NM_006397.3(RNASEH2A):c.-69G>A rs1968991813
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys) rs2145824177
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His) rs1968997110
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu) rs2145824200
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg) rs1792077195
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg) rs1252576410
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu) rs1289383180
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His) rs1968995083
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His) rs955631391
NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu) rs955631391
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)

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