ClinVar Miner

List of variants reported as uncertain significance for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Included ClinVar conditions (1):
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) rs149103381 0.00446
NM_032608.7(MYO18B):c.445A>G (p.Arg149Gly) rs116601609 0.00113
NM_032608.7(MYO18B):c.5239C>T (p.Arg1747Cys) rs200325801 0.00111
NM_032608.7(MYO18B):c.362C>G (p.Thr121Arg) rs372175819 0.00039
NM_032608.7(MYO18B):c.619G>A (p.Glu207Lys) rs1196149636 0.00031
NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr) rs375717740 0.00027
NM_032608.7(MYO18B):c.22G>A (p.Ala8Thr) rs139296373 0.00021
NM_032608.7(MYO18B):c.4390C>T (p.Arg1464Trp) rs372963298 0.00016
NM_032608.7(MYO18B):c.3616C>T (p.Pro1206Ser) rs199769850 0.00015
NM_032608.7(MYO18B):c.611C>T (p.Ala204Val) rs530488010 0.00015
NM_032608.7(MYO18B):c.7024G>A (p.Glu2342Lys) rs370531504 0.00014
NM_032608.7(MYO18B):c.1675G>A (p.Glu559Lys) rs117243697 0.00012
NM_032608.7(MYO18B):c.5854A>G (p.Ile1952Val) rs202126120 0.00011
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) rs147134820 0.00010
NM_032608.7(MYO18B):c.3527C>T (p.Pro1176Leu) rs533353146 0.00006
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) rs532777099 0.00005
NM_032608.7(MYO18B):c.2982A>G (p.Glu994=) rs199523038 0.00004
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp) rs775800465 0.00004
NM_032608.7(MYO18B):c.4146G>C (p.Trp1382Cys) rs753489293 0.00004
NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr) rs769150604 0.00004
NM_032608.7(MYO18B):c.5259+3A>G rs780108646 0.00004
NM_032608.7(MYO18B):c.6223C>T (p.Arg2075Trp) rs565221932 0.00003
NM_032608.7(MYO18B):c.7601C>T (p.Ala2534Val) rs532589500 0.00003
NM_032608.7(MYO18B):c.3509C>T (p.Ala1170Val) rs754177763 0.00002
NM_032608.7(MYO18B):c.3544C>G (p.Leu1182Val) rs745646260 0.00002
NM_032608.7(MYO18B):c.7429A>G (p.Thr2477Ala) rs1280344801 0.00002
NM_032608.7(MYO18B):c.2135G>A (p.Arg712His) rs772067339 0.00001
NM_032608.7(MYO18B):c.2488A>G (p.Ile830Val) rs544705080 0.00001
NM_032608.7(MYO18B):c.7157G>T (p.Cys2386Phe) rs754267663 0.00001
NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) rs764491130 0.00001
NM_032608.7(MYO18B):c.1225C>T (p.Arg409Trp)
NM_032608.7(MYO18B):c.1244G>T (p.Gly415Val) rs2145588441
NM_032608.7(MYO18B):c.136G>A (p.Glu46Lys)
NM_032608.7(MYO18B):c.2183C>T (p.Thr728Ile)
NM_032608.7(MYO18B):c.2191A>G (p.Ile731Val)
NM_032608.7(MYO18B):c.2396C>T (p.Ala799Val)
NM_032608.7(MYO18B):c.2503G>A (p.Ala835Thr)
NM_032608.7(MYO18B):c.2545T>C (p.Phe849Leu)
NM_032608.7(MYO18B):c.3065G>A (p.Arg1022His)
NM_032608.7(MYO18B):c.3166C>T (p.Arg1056Cys)
NM_032608.7(MYO18B):c.3389T>C (p.Phe1130Ser)
NM_032608.7(MYO18B):c.3991C>A (p.Gln1331Lys)
NM_032608.7(MYO18B):c.4399C>T (p.Arg1467Trp)
NM_032608.7(MYO18B):c.5684G>A (p.Arg1895His) rs370592345
NM_032608.7(MYO18B):c.5971-1045_5971-1042delinsGCCA
NM_032608.7(MYO18B):c.6182C>T (p.Ala2061Val)
NM_032608.7(MYO18B):c.7579C>T (p.Arg2527Ter)
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) rs1601634468

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