ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458

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