List of variants reported as likely pathogenic for autoimmune disease by Fulgent Genetics, Fulgent Genetics

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		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000383.4(AIRE):c.1095+2T>C	rs760280615	0.00009
NM_000383.4(AIRE):c.652+1G>T	rs199612115	0.00004
NM_000138.5(FBN1):c.442+1G>A	rs868403743	0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	rs727503054	0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)	rs139804668	0.00002
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)	rs763695515	0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)	rs193922418	0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)	rs179363878	0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)	rs179363885	0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	rs749673816	0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)	rs1335417539	0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	rs760838030	0.00001
NM_000043.6(FAS):c.651+1G>A	rs1564696849
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	rs112645512
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)	rs1555400373
NM_000138.5(FBN1):c.1837+5G>A	rs1445085747
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)	rs1555398681
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)	rs1555397413
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)	rs1555395486
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)	rs363810
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)	rs179363882
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)	rs371717826
NM_000545.8(HNF1A):c.1310-2A>G	rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)	rs1288094664
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)	rs768409471
NM_033629.6(TREX1):c.144dup (p.Thr49fs)	rs748914604
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	rs1331920811
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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