ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.33A>G (p.Thr11=) rs11554400 0.06936
NM_006397.3(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284 0.06918
NM_006397.3(RNASEH2A):c.550-11T>C rs7247253 0.06913
NM_006397.3(RNASEH2A):c.462G>A (p.Gln154=) rs7257575 0.06903
NM_006397.3(RNASEH2A):c.637+13G>A rs73503453 0.05671
NM_006397.3(RNASEH2A):c.-16T>C rs1046220 0.03226
NM_006397.3(RNASEH2A):c.777C>T (p.Ser259=) rs76634951 0.02157
NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782 0.01693
NM_006397.3(RNASEH2A):c.*120C>T rs73925216 0.01285
NM_006397.3(RNASEH2A):c.*123G>A rs533069935 0.00215
NM_006397.3(RNASEH2A):c.-49C>T rs375281767 0.00146
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) rs143029477 0.00075
NM_006397.3(RNASEH2A):c.*16G>T rs199696470 0.00038
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862 0.00021
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg) rs760066036 0.00013
NM_006397.3(RNASEH2A):c.199+8C>G rs200834484 0.00011
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.402C>T (p.Asn134=) rs778120777 0.00007
NM_006397.3(RNASEH2A):c.*68C>T rs564029348 0.00005
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_006397.3(RNASEH2A):c.*50T>C rs199822158 0.00003
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) rs374650162 0.00001
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) rs1415211346 0.00001
NM_006397.3(RNASEH2A):c.637+8G>A rs757139110 0.00001
NM_006397.3(RNASEH2A):c.762-13C>G rs781591228 0.00001
NM_006397.3(RNASEH2A):c.*69G>A rs969808573
NM_006397.3(RNASEH2A):c.*93A>G rs528209678
NM_006397.3(RNASEH2A):c.-69G>A rs1968991813
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.550-13G>A rs560268310
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) rs748699424
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188

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