ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Revvity Omics, Revvity

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000383.4(AIRE):c.1406del (p.Gly469fs) rs2146385757
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.2T>A (p.Met1Lys) rs2146374989
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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