ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by GeneReviews

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
NM_033629.6(TREX1):c.206_207TG[5] (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909

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