ClinVar Miner

List of variants in gene PIP5K1C reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_012398.3(PIP5K1C):c.1396G>T (p.Val466Leu) rs758323053 0.00002
NM_012398.3(PIP5K1C):c.1375C>T (p.Arg459Cys) rs1439572716 0.00001
NM_012398.3(PIP5K1C):c.1745C>T (p.Ala582Val) rs750051199 0.00001
NM_012398.3(PIP5K1C):c.219G>C (p.Lys73Asn) rs1025052908 0.00001
NM_012398.3(PIP5K1C):c.1061A>G (p.Tyr354Cys) rs2145440875
NM_012398.3(PIP5K1C):c.1190_1191delinsCT (p.Ile397Thr)
NM_012398.3(PIP5K1C):c.1212-3C>G
NM_012398.3(PIP5K1C):c.1242G>T (p.Lys414Asn)
NM_012398.3(PIP5K1C):c.1265C>G (p.Thr422Arg) rs1352036851
NM_012398.3(PIP5K1C):c.1486_1488dup (p.Ser496_Tyr497insSer)
NM_012398.3(PIP5K1C):c.1654C>G (p.Arg552Gly)
NM_012398.3(PIP5K1C):c.1826_1828del (p.Glu609del)
NM_012398.3(PIP5K1C):c.1979del (p.Pro660fs) rs748532409
NM_012398.3(PIP5K1C):c.1979dup (p.Ala661fs) rs748532409
NM_012398.3(PIP5K1C):c.257G>A (p.Gly86Asp)
NM_012398.3(PIP5K1C):c.29_43del (p.Glu10_Ala14del)
NM_012398.3(PIP5K1C):c.481A>G (p.Asn161Asp)
NM_012398.3(PIP5K1C):c.554T>G (p.Phe185Cys) rs2145463175
NM_012398.3(PIP5K1C):c.572T>G (p.Met191Arg)
NM_012398.3(PIP5K1C):c.791G>C (p.Ser264Thr) rs2034519709
NM_012398.3(PIP5K1C):c.889G>A (p.Ala297Thr)
NM_012398.3(PIP5K1C):c.900G>C (p.Lys300Asn)

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