ClinVar Miner

List of variants reported as uncertain significance for Progressive sclerosing poliodystrophy by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp) rs758438414 0.00002
NM_002693.3(POLG):c.2115G>A (p.Met705Ile) rs1302161574 0.00002
NM_002693.3(POLG):c.1A>G (p.Met1Val) rs201786897 0.00001
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn) rs752971760 0.00001
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser) rs2055414996
NM_002693.3(POLG):c.2483A>T (p.His828Leu) rs533807211
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)

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