ClinVar Miner

List of variants in gene LOC130006061, RNASEH2C studied for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_032193.4(RNASEH2C):c.69C>T (p.Asp23=) rs749020058 0.00005
NM_032193.4(RNASEH2C):c.115G>A (p.Asp39Asn) rs773527127 0.00004
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=) rs376140250 0.00003
NM_032193.4(RNASEH2C):c.140T>G (p.Phe47Cys) rs1453336065 0.00002
NM_032193.4(RNASEH2C):c.169G>A (p.Glu57Lys) rs769127379 0.00002
NM_032193.4(RNASEH2C):c.172+12G>A rs1169841008 0.00002
NM_032193.4(RNASEH2C):c.104A>G (p.Glu35Gly) rs374512840 0.00001
NM_032193.4(RNASEH2C):c.126C>T (p.Ala42=) rs1324205598 0.00001
NM_032193.4(RNASEH2C):c.151G>A (p.Ala51Thr) rs912731829 0.00001
NM_032193.4(RNASEH2C):c.172+17G>C rs746988112 0.00001
NM_032193.4(RNASEH2C):c.39C>T (p.Arg13=) rs1335036466 0.00001
NM_032193.4(RNASEH2C):c.53C>T (p.Ser18Phe) rs1261921914 0.00001
NM_032193.4(RNASEH2C):c.59C>T (p.Thr20Ile) rs1234973794 0.00001
NM_032193.4(RNASEH2C):c.78C>T (p.Pro26=) rs1419001598 0.00001
NM_032193.4(RNASEH2C):c.98C>T (p.Pro33Leu) rs11557810 0.00001
NM_032193.4(RNASEH2C):c.101G>A (p.Cys34Tyr) rs1857361152
NM_032193.4(RNASEH2C):c.102C>T (p.Cys34=)
NM_032193.4(RNASEH2C):c.105G>C (p.Glu35Asp) rs759651650
NM_032193.4(RNASEH2C):c.110C>G (p.Ala37Gly)
NM_032193.4(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.4(RNASEH2C):c.116_119dup (p.Pro41fs)
NM_032193.4(RNASEH2C):c.117C>T (p.Asp39=) rs2135654177
NM_032193.4(RNASEH2C):c.118G>C (p.Gly40Arg)
NM_032193.4(RNASEH2C):c.120G>T (p.Gly40=)
NM_032193.4(RNASEH2C):c.122C>T (p.Pro41Leu)
NM_032193.4(RNASEH2C):c.126C>G (p.Ala42=)
NM_032193.4(RNASEH2C):c.129G>A (p.Pro43=)
NM_032193.4(RNASEH2C):c.130G>C (p.Val44Leu)
NM_032193.4(RNASEH2C):c.133G>A (p.Gly45Arg)
NM_032193.4(RNASEH2C):c.136C>T (p.Arg46Cys) rs1194474428
NM_032193.4(RNASEH2C):c.137G>T (p.Arg46Leu) rs2135654103
NM_032193.4(RNASEH2C):c.138C>T (p.Arg46=)
NM_032193.4(RNASEH2C):c.141C>T (p.Phe47=) rs1857359996
NM_032193.4(RNASEH2C):c.142T>C (p.Phe48Leu) rs1857359953
NM_032193.4(RNASEH2C):c.147G>T (p.Thr49=)
NM_032193.4(RNASEH2C):c.150C>T (p.Pro50=)
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.156C>T (p.Ile52=)
NM_032193.4(RNASEH2C):c.157C>T (p.Arg53Cys)
NM_032193.4(RNASEH2C):c.159C>T (p.Arg53=) rs2135654018
NM_032193.4(RNASEH2C):c.163G>C (p.Gly55Arg)
NM_032193.4(RNASEH2C):c.164G>T (p.Gly55Val) rs1233458293
NM_032193.4(RNASEH2C):c.165C>T (p.Gly55=)
NM_032193.4(RNASEH2C):c.166C>G (p.Pro56Ala) rs1857359394
NM_032193.4(RNASEH2C):c.168C>G (p.Pro56=)
NM_032193.4(RNASEH2C):c.172+11C>A
NM_032193.4(RNASEH2C):c.172+13G>T
NM_032193.4(RNASEH2C):c.172+14C>A rs1027275130
NM_032193.4(RNASEH2C):c.172+15C>G
NM_032193.4(RNASEH2C):c.172+15C>T rs2135653906
NM_032193.4(RNASEH2C):c.172+19C>T
NM_032193.4(RNASEH2C):c.172+5G>A rs781232402
NM_032193.4(RNASEH2C):c.172+7C>T
NM_032193.4(RNASEH2C):c.172+8C>T
NM_032193.4(RNASEH2C):c.36C>T (p.His12=)
NM_032193.4(RNASEH2C):c.37del (p.Arg13fs)
NM_032193.4(RNASEH2C):c.39C>G (p.Arg13=)
NM_032193.4(RNASEH2C):c.40G>C (p.Val14Leu)
NM_032193.4(RNASEH2C):c.43C>G (p.His15Asp) rs759644653
NM_032193.4(RNASEH2C):c.46T>C (p.Leu16=) rs2135654441
NM_032193.4(RNASEH2C):c.49C>A (p.Arg17Ser) rs1857362640
NM_032193.4(RNASEH2C):c.51C>A (p.Arg17=)
NM_032193.4(RNASEH2C):c.57C>A (p.Ala19=)
NM_032193.4(RNASEH2C):c.60A>G (p.Thr20=)
NM_032193.4(RNASEH2C):c.66C>T (p.Arg22=) rs2135654352
NM_032193.4(RNASEH2C):c.70G>T (p.Ala24Ser) rs2135654326
NM_032193.4(RNASEH2C):c.71C>T (p.Ala24Val)
NM_032193.4(RNASEH2C):c.72C>A (p.Ala24=)
NM_032193.4(RNASEH2C):c.75A>C (p.Val25=)
NM_032193.4(RNASEH2C):c.75A>G (p.Val25=)
NM_032193.4(RNASEH2C):c.78C>G (p.Pro26=)
NM_032193.4(RNASEH2C):c.85C>G (p.Leu29Val)
NM_032193.4(RNASEH2C):c.85C>T (p.Leu29=) rs781290873
NM_032193.4(RNASEH2C):c.94C>T (p.Leu32=)
NM_032193.4(RNASEH2C):c.96G>A (p.Leu32=)
NM_032193.4(RNASEH2C):c.96G>T (p.Leu32=)

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