ClinVar Miner

List of variants in gene SIK1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) rs28510483 0.05232
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
NM_173354.5(SIK1):c.881C>T (p.Ala294Val) rs141114345 0.00077
NM_173354.5(SIK1):c.1744+10G>A rs376512810 0.00071
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln) rs528905001 0.00011
NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu) rs1006861899
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.190G>A (p.Asp64Asn)
NM_173354.5(SIK1):c.274-3del rs550878772

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