ClinVar Miner

List of variants studied for Schinzel-Giedion syndrome by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261 0.00602
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918 0.00192
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=) rs150875847 0.00122
NM_015559.3(SETBP1):c.1581T>G (p.Ala527=) rs150136756 0.00036
NM_015559.3(SETBP1):c.141G>A (p.Gly47=) rs146868426 0.00025
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395 0.00023
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_015559.3(SETBP1):c.2310G>A (p.Ala770=) rs373845529 0.00019
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_015559.3(SETBP1):c.2607C>T (p.Ser869=) rs74499808 0.00011
NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=) rs377760121 0.00005
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588 0.00001
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414

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