ClinVar Miner

List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006397.3(RNASEH2A):c.127+1G>C rs1273822899 0.00001
NM_006397.3(RNASEH2A):c.323+1G>T rs1388246689 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_015474.4(SAMHD1):c.1271-2A>C rs1473874262 0.00001
NM_015474.4(SAMHD1):c.1609-2A>G rs1700306908 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.509+1G>A rs1192315307 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_024570.4(RNASEH2B):c.322-2A>T rs772788079 0.00001
NM_024570.4(RNASEH2B):c.617-2A>G rs751915137 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NC_000020.10:g.(?_35532550)_(35563602_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35555565)_(35555675_?)dup
NC_000020.10:g.(?_35559143)_(35563612_?)dup
NC_000020.10:g.(?_35563422)_(35563602_?)dup
NC_000020.10:g.(?_35569432)_(35569524_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NM_001111.5(ADAR):c.1602-2A>G rs2526615034
NM_001111.5(ADAR):c.1786-1G>C rs2526606588
NM_001111.5(ADAR):c.2763-1G>A rs2526494665
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001111.5(ADAR):c.3019+1G>A
NM_006397.3(RNASEH2A):c.199+1G>C rs1289090477
NM_006397.3(RNASEH2A):c.200-1G>T rs2512890062
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A rs1969053208
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_015474.4(SAMHD1):c.1271-1G>C rs2515229165
NM_015474.4(SAMHD1):c.1410+1G>A rs374561117
NM_015474.4(SAMHD1):c.1608+1G>A rs373731440
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=) rs1990238054
NM_015474.4(SAMHD1):c.349-1G>A rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T rs2146137671
NM_015474.4(SAMHD1):c.349-6_354del rs2515264387
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.696+2T>C rs2515254153
NM_015474.4(SAMHD1):c.697-1G>T rs2146119643
NM_015474.4(SAMHD1):c.697-2A>G rs1410153662
NM_015474.4(SAMHD1):c.852+1G>A rs780504624
NM_015474.4(SAMHD1):c.852+1G>T rs780504624
NM_015474.4(SAMHD1):c.853-1G>C rs764423616
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) rs923064561
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.245-2A>C rs2541498472
NM_024570.4(RNASEH2B):c.245-2A>G rs2541498472
NM_024570.4(RNASEH2B):c.322-3C>G rs767139201
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.437-1G>A rs777313709
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A rs944032875
NM_024570.4(RNASEH2B):c.65-1G>A rs2541490868
NM_024570.4(RNASEH2B):c.698+1G>C rs367915667
NM_024570.4(RNASEH2B):c.742-1_742delinsAC rs2541543792
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977

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