ClinVar Miner

List of variants studied for Polyglandular autoimmune syndrome, type 1 by National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health

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Total variants: 32
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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.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
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.1163_1164insA (p.Met388fs) rs386833672 0.00001
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.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.1235del (p.Ser412fs)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.133-126_539-180del
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.190_226del (p.Ser64fs)
NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675

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