ClinVar Miner

List of variants reported as likely benign for autoimmune disease by Natera, Inc.

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382

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