ClinVar Miner

List of variants studied for Jaberi-Elahi syndrome

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_019096.5(GTPBP2):c.1053_1054del (p.Glu352fs) rs2127840239
NM_019096.5(GTPBP2):c.1187_1188insT (p.Asn397fs) rs2127838700
NM_019096.5(GTPBP2):c.1219C>T (p.Gln407Ter) rs1554143448
NM_019096.5(GTPBP2):c.1236+1G>A rs1252019134
NM_019096.5(GTPBP2):c.1237-1G>T rs1554143424
NM_019096.5(GTPBP2):c.1408C>T (p.Arg470Ter) rs1007812513
NM_019096.5(GTPBP2):c.1470C>T (p.Gly490=)
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) rs1768790302
NM_019096.5(GTPBP2):c.1558C>T (p.Arg520Ter)
NM_019096.5(GTPBP2):c.1726G>T (p.Glu576Ter)
NM_019096.5(GTPBP2):c.430C>T (p.Arg144Ter) rs1554143844
NM_019096.5(GTPBP2):c.611C>A (p.Ala204Asp)
NM_019096.5(GTPBP2):c.655C>T (p.Arg219Ter)
NM_019096.5(GTPBP2):c.8C>A (p.Ser3Ter)
NM_019096.5(GTPBP2):c.939C>G (p.Ile313Met)

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