ClinVar Miner

List of variants in gene RNASEH2B reported as uncertain significance for Aicardi-Goutieres syndrome

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_001142279.2(RNASEH2B):c.509delA (p.Lys170Argfs) rs1085307091
NM_024570.3(RNASEH2B):c.*159A>G rs886050292
NM_024570.3(RNASEH2B):c.*246A>G rs147825612
NM_024570.3(RNASEH2B):c.*249T>C rs886050293
NM_024570.3(RNASEH2B):c.*63G>T rs751735556
NM_024570.3(RNASEH2B):c.-107G>A rs886050289
NM_024570.3(RNASEH2B):c.-112C>T rs184573722
NM_024570.3(RNASEH2B):c.-117C>G rs553446261
NM_024570.3(RNASEH2B):c.-181G>A rs886050288
NM_024570.3(RNASEH2B):c.-228C>A rs577725827
NM_024570.3(RNASEH2B):c.-313C>G rs886050287
NM_024570.3(RNASEH2B):c.-399C>G rs553965425
NM_024570.3(RNASEH2B):c.105_107delAAT (p.Met36del)
NM_024570.3(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_024570.3(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_024570.3(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_024570.3(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937
NM_024570.3(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.699-11A>G rs886050290
NM_024570.3(RNASEH2B):c.756A>G (p.Ser252=) rs200721645
NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383
NM_024570.3(RNASEH2B):c.897C>A (p.Thr299=) rs886050291
NM_024570.3:c.285delT

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