ClinVar Miner

List of variants in gene LOC100130357, PHACTR1, TBC1D7-LOC100130357 studied for Developmental and epileptic encephalopathy, 70

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys)	rs748743403	0.00002
NM_030948.6(PHACTR1):c.1555C>G (p.Leu519Val)
NM_030948.6(PHACTR1):c.1643C>G (p.Ala548Gly)
NM_030948.6(PHACTR1):c.1688C>G (p.Thr563Ser)

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