ClinVar Miner

List of variants in gene SAMHD1, TLDC2 studied for Aicardi-Goutieres syndrome 5

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_080628.3(TLDC2):c.*18-435A>T rs747128919 0.00139
NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=) rs35102927 0.00102
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln) rs150713148 0.00039
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_080628.3(TLDC2):c.*18-292C>T rs886056646 0.00009
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn) rs202165710 0.00006
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=) rs139841806 0.00006
NM_080628.3(TLDC2):c.*18-50G>A rs188941712 0.00006
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=) rs372533307 0.00005
NM_080628.3(TLDC2):c.*239dup rs762361576 0.00005
NM_080628.3(TLDC2):c.*18-433T>C rs757372495 0.00004
NM_080628.3(TLDC2):c.*18-466G>A rs886056645 0.00004
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=) rs150658755 0.00001
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=) rs753611896 0.00001
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=) rs1449037659 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_080628.3(TLDC2):c.*18-34C>G rs570535296 0.00001
NM_080628.3(TLDC2):c.*18-578G>A rs1414917474 0.00001
NC_000020.10:g.(?_35521335)_(35526967_?)dup
NC_000020.10:g.(?_35521335)_(35540975_?)dup
NC_000020.10:g.(?_35521335)_(35563612_?)dup
NC_000020.10:g.(?_35521335)_(35580046_?)del
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp) rs2148352252
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter) rs1990117713
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)
NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn) rs1245985032
NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)
NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)
NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=) rs1601108388
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=) rs2148352120
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr) rs2148352114
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)
NM_080628.3(TLDC2):c.*18-641T>G rs886056644
NM_080628.3(TLDC2):c.*18-647C>G rs1990092783
NM_080628.3(TLDC2):c.*18-812A>G rs1990087887
NM_080628.3(TLDC2):c.*230G>C
NM_080628.3(TLDC2):c.*231_*234del rs2148352274
NM_080628.3(TLDC2):c.*233GA[3] rs774995485
NM_080628.3(TLDC2):c.*237G>A
NM_080628.3(TLDC2):c.*238A>T rs749714514
NM_080628.3(TLDC2):c.*244del

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