ClinVar Miner

Variants in gene RECQL4 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.1243C>T (p.Gln415Ter) rs2130712164
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.3340C>T (p.Gln1114Ter) rs868635592

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