ClinVar Miner

List of variants studied for Tibial muscular dystrophy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.97193-16T>G rs371317486 0.00011
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359 0.00002
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) rs1689596670
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) rs1057518931
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser) rs758704167
NM_001267550.2(TTN):c.17278del (p.Thr5760fs) rs2080494323
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs) rs2080219754
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr) rs2076871733
NM_001267550.2(TTN):c.27328+19C>G rs974890499
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro) rs766638714
NM_001267550.2(TTN):c.30683-28_30683-16del rs764830728
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) rs2050860445
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) rs1312613088
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys) rs1221486073
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile) rs773279450
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser) rs1693772565
NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys) rs2084167410

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