ClinVar Miner

List of variants reported as uncertain significance for bone marrow failure syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_006947.4(SRP72):c.*606A>T rs868279024 0.05397
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met) rs144600070 0.00471
NM_006947.4(SRP72):c.*221A>G rs149250989 0.00152
NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val) rs141719745 0.00148
NM_001012339.3(DNAJC21):c.1186-531G>A rs112971776 0.00144
NM_001012339.3(DNAJC21):c.191+10A>G rs368399096 0.00102
NM_006947.4(SRP72):c.*194G>A rs188713088 0.00073
NM_001012339.3(DNAJC21):c.958G>A (p.Asp320Asn) rs148374246 0.00058
NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg) rs200807189 0.00042
NM_006947.4(SRP72):c.*505C>T rs562987091 0.00031
NM_006947.4(SRP72):c.*624A>G rs867685822 0.00025
NM_006947.4(SRP72):c.*1385A>G rs754461786 0.00022
NM_006947.4(SRP72):c.*635C>T rs200981113 0.00015
NM_006947.4(SRP72):c.622C>T (p.Arg208Cys) rs375436807 0.00011
NM_006947.4(SRP72):c.623G>A (p.Arg208His) rs369761160 0.00011
NM_006947.4(SRP72):c.*839T>C rs757066668 0.00009
NM_006947.4(SRP72):c.*1483A>G rs566533583 0.00008
NM_006947.4(SRP72):c.*321A>G rs886059499 0.00007
NM_006947.4(SRP72):c.*622G>A rs775675334 0.00007
NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser) rs781374501 0.00007
NM_020207.7(ERCC6L2):c.2657C>T (p.Thr886Ile) rs1180420541 0.00007
NM_006947.4(SRP72):c.*1241C>T rs1282273094 0.00006
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_006947.4(SRP72):c.*1678C>T rs886059503 0.00003
NM_006947.4(SRP72):c.*1764A>G rs192226722 0.00003
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_006947.4(SRP72):c.*1478C>A rs1405583789 0.00002
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys) rs1185247120 0.00002
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_001012339.3(DNAJC21):c.410T>C (p.Phe137Ser) rs752188838 0.00001
NM_002393.5(MDM4):c.1045A>G (p.Ile349Val) rs1346731264 0.00001
NM_006947.4(SRP72):c.*227G>A rs879875987 0.00001
NM_006947.4(SRP72):c.*473G>A rs1020026480 0.00001
NM_006947.4(SRP72):c.29C>T (p.Ser10Leu) rs752240949 0.00001
NM_006947.4(SRP72):c.7A>G (p.Ser3Gly) rs1719782337 0.00001
NM_006947.4(SRP72):c.973A>G (p.Lys325Glu) rs763655714 0.00001
NM_020207.7(ERCC6L2):c.1097G>A (p.Gly366Asp) rs140078259 0.00001
NM_020207.7(ERCC6L2):c.1555C>A (p.His519Asn) rs759609268 0.00001
NM_000546.6(TP53):c.677G>C (p.Gly226Ala) rs970212462
NM_000546.6(TP53):c.869G>T (p.Arg290Leu) rs55819519
NM_001012339.3(DNAJC21):c.1015C>T (p.Arg339Trp) rs368712421
NM_001012339.3(DNAJC21):c.1016G>A (p.Arg339Gln) rs142389949
NM_001012339.3(DNAJC21):c.1368del (p.Lys456fs) rs756768331
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg) rs1580526653
NM_001085487.3(MYSM1):c.688G>C (p.Asp230His)
NM_002393.5(MDM4):c.1147T>C (p.Ser383Pro) rs2102456822
NM_006947.4(SRP72):c.*1227_*1232del rs886059502
NM_006947.4(SRP72):c.*125GT[1] rs886059498
NM_006947.4(SRP72):c.*142A>G rs878964615
NM_006947.4(SRP72):c.*1769T>G rs886059504
NM_006947.4(SRP72):c.*407T>C rs541665813
NM_006947.4(SRP72):c.*606AT[10] rs201131530
NM_006947.4(SRP72):c.*633T>C rs867120149
NM_006947.4(SRP72):c.*637TA[11] rs35852754
NM_006947.4(SRP72):c.*637TA[7] rs35852754
NM_006947.4(SRP72):c.*637TA[9] rs35852754
NM_006947.4(SRP72):c.-10C>T
NM_006947.4(SRP72):c.1900G>C (p.Val634Leu)
NM_006947.4(SRP72):c.1938C>G (p.His646Gln) rs1721270142
NM_006947.4(SRP72):c.574C>G (p.Leu192Val) rs772592244
NM_006947.4(SRP72):c.979T>C (p.Ser327Pro) rs1040868057
NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg) rs1588056898
NM_020207.7(ERCC6L2):c.789-6_789-3del rs754561683

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