List of variants in gene combination SAMHD1, TLDC2 reported as uncertain significance for autoinflammatory syndrome of childhood

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_015474.4(SAMHD1):c.*240G>A	rs143588093	0.00244
NM_015474.4(SAMHD1):c.*505T>A	rs747128919	0.00139
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)	rs150713148	0.00039
NM_015474.4(SAMHD1):c.*95T>C	rs147220022	0.00038
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)	rs202165710	0.00013
NM_015474.4(SAMHD1):c.*362G>A	rs886056646	0.00009
NM_015474.4(SAMHD1):c.*503A>G	rs757372495	0.00004
NM_015474.4(SAMHD1):c.*536C>T	rs886056645	0.00004
NM_015474.4(SAMHD1):c.*871G>A	rs1030352932	0.00002
NM_015474.4(SAMHD1):c.*104G>C	rs570535296	0.00001
NM_015474.4(SAMHD1):c.*648C>T	rs1414917474	0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	rs761596589	0.00001
NC_000020.10:g.(?_35521335)_(35526967_?)dup
NC_000020.10:g.(?_35521335)_(35540975_?)dup
NC_000020.10:g.(?_35521335)_(35563612_?)dup
NC_000020.11:g.(?_36892912)_(36898564_?)dup
NM_015474.4(SAMHD1):c.*711A>C	rs886056644
NM_015474.4(SAMHD1):c.*717G>C	rs1990092783
NM_015474.4(SAMHD1):c.*882T>C	rs1990087887
NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)	rs2148352252
NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)	rs1990117713
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.1831C>G (p.Arg611Gly)
NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)
NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)	rs2148352114
NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)
NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)

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