List of variants in gene RNASEH2C reported as likely pathogenic for Aicardi-Goutieres syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu)	rs76091978	0.00001
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)	rs772940104
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met)	rs772757667
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser)	rs77834781
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)	rs1064793942

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