ClinVar Miner

List of variants in gene RNASEH2A reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006397.3(RNASEH2A):c.323+1G>T rs1388246689 0.00001
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.199+1G>C
NM_006397.3(RNASEH2A):c.200-1G>T
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) rs2145824951
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A
NM_006397.3(RNASEH2A):c.549+1G>T
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_006397.3(RNASEH2A):c.704G>C (p.Arg235Pro)
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725

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