ClinVar Miner

List of variants studied for Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_004260.4(RECQL4):c.2420G>A (p.Arg807His) rs571684398 0.00013
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_004260.4(RECQL4):c.3305A>G (p.Asp1102Gly) rs762384825 0.00007
NM_004260.4(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132 0.00006
NM_004260.4(RECQL4):c.2684G>A (p.Arg895Lys) rs763846344 0.00004
NM_004260.4(RECQL4):c.551G>A (p.Gly184Asp) rs369118443 0.00004
NM_004260.4(RECQL4):c.2513A>C (p.Asp838Ala) rs1317677692 0.00001
NM_004260.4(RECQL4):c.3334G>A (p.Glu1112Lys) rs753620447 0.00001
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.3257G>C (p.Gly1086Ala)

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