ClinVar Miner

List of variants in gene RAPGEF2 studied for electroclinical syndrome

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001394067.2(RAPGEF2):c.4923C>T (p.Pro1641=) rs1135004 0.49329
NM_001394067.2(RAPGEF2):c.282-12C>A rs77229150 0.04853
NM_001394067.2(RAPGEF2):c.1303-68TG[16] rs59463532
NM_001394067.2(RAPGEF2):c.1303-68TG[17] rs59463532
NM_001394067.2(RAPGEF2):c.3713-10del rs11320537
NM_001394067.2(RAPGEF2):c.4958-8A>G rs1732314095
NM_001394067.2(RAPGEF2):c.4975G>A (p.Ala1659Thr)
NM_001394067.2(RAPGEF2):c.819G>C (p.Glu273Asp) rs1764342195
RAPGEF2, 5-BP INS, TTTCA(n) REPEAT EXPANSION

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