ClinVar Miner

List of variants in gene combination MILR1, POLG2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) rs144148008 0.00011
NM_007215.4(POLG2):c.703A>G (p.Thr235Ala) rs148941150 0.00011
NM_007215.4(POLG2):c.290C>T (p.Pro97Leu) rs782219499 0.00004
NM_007215.4(POLG2):c.851G>A (p.Arg284Gln) rs782115619 0.00004
NM_007215.4(POLG2):c.734C>T (p.Pro245Leu) rs61751984 0.00003
NM_007215.4(POLG2):c.620G>T (p.Gly207Val) rs782161056 0.00002
NM_007215.4(POLG2):c.778C>T (p.Leu260Phe) rs781872075 0.00002
NM_007215.4(POLG2):c.-5G>A rs782806271 0.00001
NM_007215.4(POLG2):c.-7GA[3] (p.Met1fs)
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter) rs782004592
NM_007215.4(POLG2):c.1139C>T (p.Pro380Leu)
NM_007215.4(POLG2):c.1219C>A (p.Leu407Ile)
NM_007215.4(POLG2):c.242G>C (p.Gly81Ala)
NM_007215.4(POLG2):c.319C>A (p.Arg107=) rs782794876
NM_007215.4(POLG2):c.32A>C (p.His11Pro) rs2038163431
NM_007215.4(POLG2):c.395A>G (p.His132Arg)
NM_007215.4(POLG2):c.455C>G (p.Thr152Ser) rs781997214
NM_007215.4(POLG2):c.47G>C (p.Cys16Ser) rs1064797227
NM_007215.4(POLG2):c.703A>T (p.Thr235Ser)
NM_007215.4(POLG2):c.804G>C (p.Met268Ile)

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