ClinVar Miner

List of variants in gene RNASEH2A reported as uncertain significance for Aicardi-Goutieres syndrome

Included ClinVar conditions (15):
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_006397.2(RNASEH2A):c.*16G>T rs199696470
NM_006397.2(RNASEH2A):c.*50T>C rs199822158
NM_006397.2(RNASEH2A):c.*68C>T rs564029348
NM_006397.2(RNASEH2A):c.-25A>G rs886054235
NM_006397.2(RNASEH2A):c.-49C>T rs375281767
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro)
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) rs891089016
NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val)
NM_006397.2(RNASEH2A):c.285G>A (p.Val95=) rs374650162
NM_006397.2(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.2(RNASEH2A):c.324-6C>A
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr)
NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln)
NM_006397.2(RNASEH2A):c.566C>A (p.Ala189Asp)
NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) rs370225385
NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.2(RNASEH2A):c.637+8G>A rs757139110
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp)
NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys)
NM_006397.2(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu)
NM_006397.2(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304
NM_006397.2(RNASEH2A):c.762-13C>G rs781591228
NM_006397.2(RNASEH2A):c.79G>C (p.Glu27Gln)
NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006397.2(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser)

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