ClinVar Miner

List of variants studied for thyroid gland disorder by Revvity Omics, Revvity

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.3559G>A (p.Val1187Ile) rs138971379 0.00091
NM_003235.5(TG):c.3983G>A (p.Arg1328His) rs141146573 0.00086
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_003235.5(TG):c.1802C>T (p.Thr601Met) rs139516987 0.00048
NM_003235.5(TG):c.2977G>A (p.Ala993Thr) rs142998186 0.00042
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_003235.5(TG):c.7753C>T (p.Arg2585Trp) rs114211101 0.00032
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_001363711.2(DUOX2):c.1825C>T (p.Pro609Ser) rs201221237 0.00014
NM_001363711.2(DUOX2):c.4049C>T (p.Pro1350Leu) rs140035596 0.00014
NM_001363711.2(DUOX2):c.1268C>T (p.Thr423Ile) rs201197899 0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_001363711.2(DUOX2):c.3175C>T (p.Arg1059Cys) rs145502900 0.00009
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter) rs119472026 0.00007
NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter) rs119472028 0.00006
NM_001363711.2(DUOX2):c.3693+1G>T rs200717240 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001363711.2(DUOX2):c.2000del (p.Leu667fs) rs772348846 0.00004
NM_003235.5(TG):c.6529C>T (p.Arg2177Cys) rs555719562 0.00004
NM_024077.5(SECISBP2):c.358C>T (p.Arg120Ter) rs777447200 0.00003
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_001363711.2(DUOX2):c.2101C>T (p.Arg701Ter) rs201109959 0.00002
NM_003466.4(PAX8):c.754C>G (p.Pro252Ala) rs768835143 0.00002
NM_000453.3(SLC5A5):c.1789G>A (p.Gly597Arg) rs536886161 0.00001
NM_001363711.2(DUOX2):c.2635G>A (p.Glu879Lys) rs774556391 0.00001
NM_001363711.2(DUOX2):c.3687T>A (p.Tyr1229Ter) rs753527559 0.00001
NM_003235.5(TG):c.1835C>G (p.Pro612Arg) rs772505924 0.00001
NM_001363711.2(DUOX2):c.1435C>G (p.Leu479Val) rs1595526504
NM_001363711.2(DUOX2):c.1708C>T (p.Gln570Ter)
NM_001363711.2(DUOX2):c.2110C>T (p.Arg704Cys)
NM_001363711.2(DUOX2):c.2579C>A (p.Ser860Tyr)
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.2921+2T>C rs2141145828
NM_001363711.2(DUOX2):c.3240C>T (p.Ile1080=)
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.4060G>A (p.Gly1354Ser)
NM_001363711.2(DUOX2):c.4326G>A (p.Gln1442=)
NM_001363711.2(DUOX2):c.4597G>C (p.Val1533Leu) rs748789760
NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001363711.2(DUOX2):c.618del (p.Asp208fs) rs772809435
NM_001555.5(IGSF1):c.1007G>A (p.Gly336Asp)
NM_001555.5(IGSF1):c.2042-1_2042del
NM_001555.5(IGSF1):c.3813T>G (p.Val1271=)
NM_003235.5(TG):c.1273A>G (p.Met425Val)
NM_003235.5(TG):c.1451A>T (p.Asn484Ile)
NM_003235.5(TG):c.2079C>G (p.Phe693Leu) rs114115584
NM_003235.5(TG):c.2239T>A (p.Ser747Thr)
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
NM_003235.5(TG):c.2936G>A (p.Arg979Gln)
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
NM_003235.5(TG):c.3402G>C (p.Glu1134Asp)
NM_003235.5(TG):c.3748C>T (p.Arg1250Cys)
NM_003235.5(TG):c.4589G>A (p.Arg1530Gln)
NM_003235.5(TG):c.4856C>T (p.Ser1619Phe)
NM_003235.5(TG):c.5608C>G (p.Gln1870Glu)
NM_003235.5(TG):c.6274T>C (p.Ser2092Pro)
NM_003235.5(TG):c.6397+2T>A rs2130888037
NM_003235.5(TG):c.6444A>G (p.Gln2148=)
NM_003235.5(TG):c.6550T>A (p.Tyr2184Asn)
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)
NM_003235.5(TG):c.7595G>A (p.Arg2532Gln)
NM_003235.5(TG):c.8071C>T (p.Arg2691Cys)
NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg)
NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)
NM_007117.5(TRH):c.676C>T (p.Arg226Trp)
NM_024077.5(SECISBP2):c.1775C>T (p.Ser592Leu)
NM_199334.5(THRA):c.788C>T (p.Ala263Val) rs1555545033

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