ClinVar Miner

List of variants studied for 3-M syndrome by Baylor Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter) rs764560783 0.00005
NM_014780.5(CUL7):c.2200C>T (p.Arg734Cys) rs537793662 0.00004
NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu) rs765173994 0.00004
NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp) rs200837976 0.00004
NM_015311.3(OBSL1):c.2327C>G (p.Pro776Arg) rs371579379 0.00003
NM_032040.5(CCDC8):c.287C>G (p.Thr96Arg) rs758816408 0.00003
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_014780.5(CUL7):c.580+48C>T rs377606153 0.00001
NM_014780.5(CUL7):c.2381T>G (p.Leu794Arg) rs1763962099
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014780.5(CUL7):c.4504A>T (p.Ile1502Phe) rs1188969387
NM_014780.5(CUL7):c.5041C>G (p.Arg1681Gly) rs375165020
NM_015311.3(OBSL1):c.2474del (p.Val825fs) rs1057518716
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748

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