ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 1

Included ClinVar conditions (3):
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Total variants: 22
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HGVS dbSNP
NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.2(TREX1):c.490C>T (p.Arg164Ter) rs78218009
NM_033629.2(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.4(TREX1):c.212_213delTG (p.Val71Glyfs) rs74689946
NM_033629.4(TREX1):c.294dupA (p.Cys99Metfs) rs760594164
NM_033629.4(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.4(TREX1):c.397delC (p.Leu133Cysfs) rs78762691
NM_033629.4(TREX1):c.500delG (p.Ser167Thrfs) rs76642637
NM_033629.4(TREX1):c.629G>A (p.Trp210Ter) rs184953805
NM_033629.4(TREX1):c.868_885del18 (p.Pro290_Ala295del) rs79318303
NM_033629.4(TREX1):c.907A>C (p.Thr303Pro) rs76224909
NM_033629.5(TREX1):c.393_408dup (p.Glu137Profs) rs74876396
NM_033629.5(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.5(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.5(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) rs78379807
NM_033629.6(TREX1):c.212_213dup (p.Ala72Trpfs) rs74689946
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20Glyfs) rs78300695
NM_033629.6(TREX1):c.625_628dup (p.Trp210Serfs) rs78948846
TREX1, 1-BP DEL, 581C

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