ClinVar Miner

List of variants in gene SIK1 reported by GeneDx

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Total variants: 20
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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.1505G>A (p.Gly502Glu) rs763399015 0.00001
NM_173354.5(SIK1):c.1233_1244del (p.Ser411_Trp415delinsArg)
NM_173354.5(SIK1):c.1291C>T (p.Pro431Ser)
NM_173354.5(SIK1):c.1532_1534del (p.Phe511del) rs766669273
NM_173354.5(SIK1):c.1648C>T (p.Pro550Ser)
NM_173354.5(SIK1):c.1670G>T (p.Gly557Val)
NM_173354.5(SIK1):c.189A>C (p.Leu63Phe) rs2146476083
NM_173354.5(SIK1):c.1936G>A (p.Glu646Lys)
NM_173354.5(SIK1):c.2042C>T (p.Pro681Leu) rs2146467994
NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser) rs772047499
NM_173354.5(SIK1):c.2191C>A (p.His731Asn) rs1555890879
NM_173354.5(SIK1):c.2243G>T (p.Arg748Leu) rs375516507
NM_173354.5(SIK1):c.405_421dup (p.His141fs)
NM_173354.5(SIK1):c.500-3C>G rs747258177
NM_173354.5(SIK1):c.536C>G (p.Pro179Arg) rs2146473786
NM_173354.5(SIK1):c.698G>A (p.Arg233Lys) rs2146473283
NM_173354.5(SIK1):c.788C>T (p.Pro263Leu)
NM_173354.5(SIK1):c.934A>C (p.Met312Leu)

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