List of variants in gene RNASEH2A studied for RNASEH2A-related disorder

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006397.3(RNASEH2A):c.684C>T (p.Phe228=)	rs147131347	0.00078
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)	rs143534021	0.00048
NM_006397.3(RNASEH2A):c.747G>A (p.Ala249=)	rs144494263	0.00029
NM_006397.3(RNASEH2A):c.741A>G (p.Lys247=)	rs140320292	0.00013
NM_006397.3(RNASEH2A):c.200-8C>T	rs370810663	0.00012
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)	rs758719669	0.00009
NM_006397.3(RNASEH2A):c.638-9C>A	rs370005103	0.00006
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=)	rs767723275	0.00004
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)	rs77103971	0.00003
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	rs753679297	0.00001
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)	rs549586181
NM_006397.3(RNASEH2A):c.208A>G (p.Thr70Ala)
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)	rs1386586416
NM_006397.3(RNASEH2A):c.323+8G>A	rs2512890321
NM_006397.3(RNASEH2A):c.718_719delinsGCAT (p.Thr240fs)	rs2512479908

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