ClinVar Miner

List of variants reported as uncertain significance for Rothmund-Thomson syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu) rs199543866 0.00082
NM_004260.4(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416 0.00076
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_004260.4(RECQL4):c.25G>A (p.Glu9Lys) rs1035057882 0.00042
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_004260.4(RECQL4):c.214-3C>A rs367849648 0.00025
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00024
NM_004260.4(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405 0.00024
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152 0.00016
NM_004260.4(RECQL4):c.2503G>A (p.Asp835Asn) rs373187237 0.00016
NM_004260.4(RECQL4):c.2747C>T (p.Pro916Leu) rs375049839 0.00014
NM_004260.4(RECQL4):c.3430C>T (p.Arg1144Cys) rs202134651 0.00011
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624 0.00008
NM_004260.4(RECQL4):c.1852C>T (p.Arg618Trp) rs766726409 0.00006
NM_004260.4(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811 0.00005
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00005
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) rs763453097 0.00005
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023 0.00004
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004260.4(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072 0.00003
NM_004260.4(RECQL4):c.701C>G (p.Ser234Cys) rs746487281 0.00003
NM_004260.4(RECQL4):c.2039T>C (p.Met680Thr) rs372717152 0.00002
NM_004260.4(RECQL4):c.2463+3T>C rs538535710 0.00002
NM_004260.4(RECQL4):c.608G>A (p.Gly203Glu) rs776532961 0.00002
NM_004260.4(RECQL4):c.892C>T (p.Pro298Ser) rs892796827 0.00002
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn) rs765611938 0.00001
NM_004260.4(RECQL4):c.1691C>G (p.Ser564Cys) rs1370043767 0.00001
NM_004260.4(RECQL4):c.1903C>T (p.His635Tyr) rs758743745 0.00001
NM_004260.4(RECQL4):c.3113G>A (p.Arg1038His) rs374254271 0.00001
NM_004260.4(RECQL4):c.371G>A (p.Gly124Asp) rs368160871 0.00001
NM_004260.4(RECQL4):c.446C>T (p.Pro149Leu) rs773579080 0.00001
NM_004260.4(RECQL4):c.113C>A (p.Thr38Asn) rs1348040384
NM_004260.4(RECQL4):c.1417C>G (p.Leu473Val) rs587778654
NM_004260.4(RECQL4):c.1568G>C (p.Ser523Thr) rs754735053
NM_004260.4(RECQL4):c.2086C>T (p.Arg696Cys) rs531970883
NM_004260.4(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.4(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.4(RECQL4):c.2414_2422del (p.Ala805_Arg807del)
NM_004260.4(RECQL4):c.2422G>A (p.Asp808Asn) rs1423500226
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu) rs200629599
NM_004260.4(RECQL4):c.3084G>A (p.Val1028=) rs1827393391
NM_004260.4(RECQL4):c.312C>G (p.Asp104Glu)
NM_004260.4(RECQL4):c.3338G>C (p.Gly1113Ala)
NM_004260.4(RECQL4):c.3460_3462del (p.Lys1154del) rs1564787405
NM_004260.4(RECQL4):c.545G>C (p.Arg182Pro) rs565903685

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