ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2463+18_2463+19del rs71320828
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512

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