ClinVar Miner

List of variants reported as likely benign for Three M syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 20
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NM_014780.4(CUL7):c.-168C>T rs3737186
NM_014780.4(CUL7):c.1027C>T (p.Pro343Ser) rs113845886
NM_014780.4(CUL7):c.1202G>A (p.Arg401Gln) rs73733791
NM_014780.4(CUL7):c.1846A>G (p.Ser616Gly) rs7774330
NM_014780.4(CUL7):c.2555G>A (p.Arg852Gln) rs34574340
NM_014780.4(CUL7):c.3096C>T (p.Asp1032=) rs138276478
NM_014780.4(CUL7):c.4794G>A (p.Lys1598=) rs61437700
NM_014780.4(CUL7):c.4898C>T (p.Thr1633Met) rs139249497
NM_015311.3(OBSL1):c.-42T>C rs879691022
NM_015311.3(OBSL1):c.-42del rs757193063
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) rs200349173
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766
NM_015311.3(OBSL1):c.4067-11G>A rs1983211
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) rs200341414
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=) rs3795991
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309

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