ClinVar Miner

List of variants studied for Progressive sclerosing poliodystrophy by Mendelics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs) rs1379405913
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099

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