ClinVar Miner

List of variants in gene combination SLA, TG reported as uncertain significance for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.7539C>T (p.Asp2513=) rs114539802 0.00591
NM_003235.5(TG):c.7449C>T (p.Ile2483=) rs115806626 0.00138
NM_003235.5(TG):c.7335A>T (p.Ser2445=) rs146491847 0.00048
NM_003235.5(TG):c.7364G>A (p.Arg2455His) rs2272707 0.00023
NM_003235.5(TG):c.7248C>T (p.Ser2416=) rs774676063 0.00004
NM_001045556.3(SLA):c.-319+6356G>A rs778963384
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172
NM_003235.5(TG):c.7414G>A (p.Val2472Met) rs61730222
NM_003235.5(TG):c.7501_7502inv (p.Trp2501Gln)

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