ClinVar Miner

Variants in gene TYK2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_003331.5(TYK2):c.193+14G>A rs199931972 0.00041
NM_003331.5(TYK2):c.2985C>T (p.Ile995=) rs147442318 0.00031
NM_003331.5(TYK2):c.648G>A (p.Pro216=) rs142642403 0.00030
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) rs201240289 0.00027
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) rs144332908 0.00026
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) rs200791116 0.00014
NM_003331.5(TYK2):c.1806C>T (p.Asn602=) rs765576893 0.00010
NM_003331.5(TYK2):c.1398C>T (p.Pro466=) rs200752112 0.00009
NM_003331.5(TYK2):c.372T>C (p.Arg124=) rs371832787 0.00008
NM_003331.5(TYK2):c.489C>T (p.Asp163=) rs748475805 0.00008
NM_003331.5(TYK2):c.783C>G (p.Ala261=) rs371939297 0.00008
NM_003331.5(TYK2):c.2176-9C>T rs370673325 0.00006
NM_003331.5(TYK2):c.1254G>A (p.Ser418=) rs201945206 0.00004
NM_003331.5(TYK2):c.1839C>T (p.Ser613=) rs748006603 0.00004
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=) rs764154157 0.00004
NM_003331.5(TYK2):c.2646G>C (p.Pro882=) rs184567726 0.00003
NM_003331.5(TYK2):c.3201-15C>T rs766488790 0.00002
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=) rs372903125 0.00002
NM_003331.5(TYK2):c.1404C>T (p.Asp468=) rs374132564 0.00001
NM_003331.5(TYK2):c.2658G>A (p.Ala886=) rs761205319 0.00001
NM_003331.5(TYK2):c.879C>T (p.Ile293=) rs375414145 0.00001
NM_003331.5(TYK2):c.2618-14C>G rs532521303
NM_003331.5(TYK2):c.2715+9C>T rs886054132
NM_003331.5(TYK2):c.789C>T (p.Leu263=)

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