ClinVar Miner

List of variants in gene MAPT reported as uncertain significance by Invitae

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.1630G>A (p.Ala544Thr) rs143624519 0.00179
NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr) rs63750096 0.00067
NM_001377265.1(MAPT):c.1801C>T (p.Arg601Cys) rs138984221 0.00006
NM_001377265.1(MAPT):c.1802G>A (p.Arg601His) rs115492908 0.00006
NM_001377265.1(MAPT):c.220+2491C>T rs780582778 0.00006
NM_001377265.1(MAPT):c.62G>T (p.Gly21Val) rs781076528 0.00004
NM_001377265.1(MAPT):c.1008G>A (p.Ala336=) rs200385096 0.00003
NM_001377265.1(MAPT):c.2035G>A (p.Val679Ile) rs149280278 0.00003
NM_001377265.1(MAPT):c.220+2490G>A rs371071165 0.00003
NM_001377265.1(MAPT):c.14G>A (p.Arg5His) rs63750959 0.00002
NM_001377265.1(MAPT):c.220+2503C>T rs138293088 0.00002
NM_001377265.1(MAPT):c.2446C>A (p.Gln816Lys) rs63750191 0.00002
NM_001377265.1(MAPT):c.13C>T (p.Arg5Cys) rs766166210 0.00001
NM_001377265.1(MAPT):c.1607G>A (p.Gly536Glu) rs116231676 0.00001
NM_001377265.1(MAPT):c.1985C>T (p.Pro662Leu) rs1047467075 0.00001
NM_001377265.1(MAPT):c.2313C>T (p.Arg771=) rs373462041 0.00001
NM_001377265.1(MAPT):c.262G>A (p.Glu88Lys) rs373705830 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)
NM_001377265.1(MAPT):c.121G>A (p.Ala41Thr)
NM_001377265.1(MAPT):c.1355G>A (p.Arg452His)
NM_001377265.1(MAPT):c.1364G>A (p.Ser455Asn)
NM_001377265.1(MAPT):c.1366A>G (p.Lys456Glu)
NM_001377265.1(MAPT):c.1629C>G (p.Ile543Met) rs759212591
NM_001377265.1(MAPT):c.1652C>T (p.Pro551Leu)
NM_001377265.1(MAPT):c.1703C>T (p.Pro568Leu) rs1273925499
NM_001377265.1(MAPT):c.1733-3del rs2074473044
NM_001377265.1(MAPT):c.1749_1750del (p.Asp585fs)
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)
NM_001377265.1(MAPT):c.1808G>A (p.Arg603His)
NM_001377265.1(MAPT):c.1811C>A (p.Thr604Asn) rs763356972
NM_001377265.1(MAPT):c.1831C>T (p.Pro611Ser) rs1598326219
NM_001377265.1(MAPT):c.1918G>A (p.Val640Met)
NM_001377265.1(MAPT):c.1982A>T (p.Gln661Leu) rs2074495003
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2173G>T (p.Gly725Ter) rs2076012350
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) rs1598408073
NM_001377265.1(MAPT):c.220+2451C>G
NM_001377265.1(MAPT):c.2286+6G>T rs2076343277
NM_001377265.1(MAPT):c.232G>A (p.Gly78Ser)
NM_001377265.1(MAPT):c.233G>A (p.Gly78Asp)
NM_001377265.1(MAPT):c.2344G>A (p.Ala782Thr)
NM_001377265.1(MAPT):c.235A>G (p.Ile79Val)
NM_001377265.1(MAPT):c.2428G>A (p.Asp810Asn)
NM_001377265.1(MAPT):c.258A>C (p.Glu86Asp)
NM_001377265.1(MAPT):c.25G>A (p.Glu9Lys)
NM_001377265.1(MAPT):c.266C>G (p.Ala89Gly)
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001377265.1(MAPT):c.60G>C (p.Leu20Phe)
NM_001377265.1(MAPT):c.630_640del (p.Phe211fs) rs768990943
NM_001377265.1(MAPT):c.80G>A (p.Gly27Glu)
NM_001377265.1(MAPT):c.841G>T (p.Ala281Ser) rs1321460540

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