ClinVar Miner

List of variants reported as likely benign for 3-M syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.-42del rs757193063 0.13587
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) rs115417324 0.00317
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) rs200349173 0.00270
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) rs181182663 0.00256
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) rs201032988 0.00210
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) rs150250100 0.00145
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) rs36004037 0.00089
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=) rs3795991 0.00087
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_014780.4(CUL7):c.-272C>T rs754072990 0.00033
NM_014780.4(CUL7):c.-298C>G rs369727378 0.00026
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) rs200780633 0.00026
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841 0.00024
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) rs147793515 0.00017
NM_015311.3(OBSL1):c.5308+12T>G rs377219196 0.00015
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) rs74589174 0.00014
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) rs77287119 0.00009
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) rs556207267 0.00008
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_015311.3(OBSL1):c.-12T>C rs781320979 0.00007
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) rs562419349 0.00004
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) rs557890380
NM_015311.3(OBSL1):c.4067-11G>A rs1983211

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