ClinVar Miner

List of variants studied for Progressive sclerosing poliodystrophy by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_002693.3(POLG):c.1816dup (p.Thr606fs)	rs1319481399	0.00001

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