ClinVar Miner

List of variants reported as not provided for autoimmune disease by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser) rs760982375 0.00004
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro) rs369732140 0.00003
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.5018T>C (p.Ile1673Thr) rs2043300504
NM_000138.5(FBN1):c.5485G>C (p.Gly1829Arg) rs1597537835
NM_000138.5(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys) rs1001861018
NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr) rs1553666756

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