ClinVar Miner

List of variants studied for autosomal dominant distal myopathy by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
NM_001267550.2(TTN):c.11311+4088A>G rs142304137
NM_001267550.2(TTN):c.11311+5131G>A
NM_001267550.2(TTN):c.11312-3963G>T rs148430495
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) rs1057518931
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser)
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs)
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr)
NM_001267550.2(TTN):c.27328+19C>G
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859
NM_001267550.2(TTN):c.30683-28_30683-16del
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) rs771294359
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
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)
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys)
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)
NM_001267550.2(TTN):c.97193-16T>G rs371317486
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723
NM_001927.4(DES):c.428T>C (p.Leu143Pro)
NM_006790.2(MYOT):c.998C>T (p.Thr333Ile) rs758194318

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