ClinVar Miner

List of variants studied for Jaberi-Elahi syndrome

Included ClinVar conditions (1):
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Total variants: 5
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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.430C>T (p.Arg144Ter) rs1554143844

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