ClinVar Miner

List of variants reported as benign for Polyglandular autoimmune syndrome, type 1

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
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.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520

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