ClinVar Miner

List of variants in gene RNASEH2C reported as likely pathogenic for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):

Aicardi Goutieres syndrome 3

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs)	rs772940104
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)

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