ClinVar Miner

List of variants reported as likely pathogenic for autoimmune thyroid disease, susceptibility to by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu) rs201514086 0.00004
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) rs376200169 0.00001
NM_003235.5(TG):c.638+5G>A rs774274702 0.00001
NM_003235.5(TG):c.7123G>A (p.Gly2375Arg) rs137854434 0.00001
NM_003235.5(TG):c.1042G>T (p.Gly348Ter)
NM_003235.5(TG):c.1072dup (p.Cys358fs)
NM_003235.5(TG):c.115G>T (p.Glu39Ter)
NM_003235.5(TG):c.1425_1426dup (p.Phe476fs)
NM_003235.5(TG):c.1502dup (p.Gln502fs)
NM_003235.5(TG):c.1830_1831del (p.Gln610fs)
NM_003235.5(TG):c.2008C>T (p.Gln670Ter)
NM_003235.5(TG):c.213G>A (p.Trp71Ter)
NM_003235.5(TG):c.2266dup (p.Ser756fs)
NM_003235.5(TG):c.2311C>T (p.Gln771Ter)
NM_003235.5(TG):c.2443G>T (p.Gly815Ter) rs16904774
NM_003235.5(TG):c.2761+1G>T
NM_003235.5(TG):c.2898del (p.Asn967fs)
NM_003235.5(TG):c.2950G>T (p.Glu984Ter)
NM_003235.5(TG):c.3001+2T>C
NM_003235.5(TG):c.3231C>A (p.Cys1077Ter)
NM_003235.5(TG):c.3331-2A>G
NM_003235.5(TG):c.3488del (p.Pro1163fs)
NM_003235.5(TG):c.3634+1G>A
NM_003235.5(TG):c.4014del (p.Phe1338fs)
NM_003235.5(TG):c.4357del (p.Ser1453fs)
NM_003235.5(TG):c.4434delinsGA (p.Gly1479fs)
NM_003235.5(TG):c.4644del (p.Arg1549fs)
NM_003235.5(TG):c.4670_4671del (p.Glu1557fs)
NM_003235.5(TG):c.479-2A>G
NM_003235.5(TG):c.5184C>A (p.Cys1728Ter) rs199599591
NM_003235.5(TG):c.5367dup (p.Ile1790fs)
NM_003235.5(TG):c.5549-1_5556del
NM_003235.5(TG):c.6562+1G>A
NM_003235.5(TG):c.6562+2T>A
NM_003235.5(TG):c.6562+2T>C
NM_003235.5(TG):c.6780_6782+13delinsTGGGATGCCTG
NM_003235.5(TG):c.6782+1G>T
NM_003235.5(TG):c.6794G>A (p.Trp2265Ter)
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln) rs121912650
NM_003235.5(TG):c.7036+2T>G
NM_003235.5(TG):c.7037-2del
NM_003235.5(TG):c.745+1_745+9delinsATC
NM_003235.5(TG):c.7588C>T (p.Arg2530Ter)
NM_003235.5(TG):c.773_774del (p.Ile257_Tyr258insTer)
NM_003235.5(TG):c.7863-1G>A
NM_003235.5(TG):c.7955C>A (p.Ser2652Ter)

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