ClinVar Miner

List of variants in gene FTSJ1 reported by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_012280.4(FTSJ1):c.495C>T (p.Leu165=) rs34407506 0.01692
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358 0.00639
NM_012280.4(FTSJ1):c.270G>T (p.Gly90=) rs138008946 0.00276
NM_012280.4(FTSJ1):c.304A>T (p.Ile102Phe) rs75296308 0.00201
NM_012280.4(FTSJ1):c.654C>T (p.Tyr218=) rs141084617 0.00178
NM_012280.4(FTSJ1):c.409C>T (p.Leu137=) rs34981721 0.00148
NM_012280.4(FTSJ1):c.738G>A (p.Ser246=) rs140074225 0.00121
NM_012280.4(FTSJ1):c.325C>T (p.Pro109Ser) rs200713075 0.00079
NM_012280.4(FTSJ1):c.893G>A (p.Ser298Asn) rs142932029 0.00033
NM_012280.4(FTSJ1):c.580G>A (p.Ala194Thr) rs149550806 0.00010
NM_012280.4(FTSJ1):c.187A>G (p.Ile63Val) rs782099600 0.00009
NM_012280.4(FTSJ1):c.769G>A (p.Gly257Ser) rs782303332 0.00005
NM_012280.4(FTSJ1):c.111A>C (p.Gln37His)
NM_012280.4(FTSJ1):c.133del (p.Ala45fs)
NM_012280.4(FTSJ1):c.161G>C (p.Ser54Thr) rs1556967227
NM_012280.4(FTSJ1):c.204C>T (p.Ser68=)
NM_012280.4(FTSJ1):c.205G>A (p.Gly69Ser)
NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys) rs782012239
NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn) rs797044864
NM_012280.4(FTSJ1):c.352del (p.Ala118fs)
NM_012280.4(FTSJ1):c.366C>T (p.Thr122=)
NM_012280.4(FTSJ1):c.596A>G (p.Tyr199Cys)
NM_012280.4(FTSJ1):c.75C>T (p.Ser25=)
NM_012280.4(FTSJ1):c.777G>A (p.Glu259=)
NM_012280.4(FTSJ1):c.868A>G (p.Ile290Val)

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