ClinVar Miner

List of variants reported as benign for bone marrow failure syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001085487.3(MYSM1):c.400-18C>T rs2206764 0.89498
NM_001085487.3(MYSM1):c.2032-8C>A rs232790 0.89319
NM_001085487.3(MYSM1):c.1275A>G (p.Pro425=) rs579110 0.62880
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_001085487.3(MYSM1):c.790A>G (p.Thr264Ala) rs12139511 0.61327
NM_001085487.3(MYSM1):c.1572+22G>C rs2064370 0.59703
NM_001085487.3(MYSM1):c.148-29A>G rs12097333 0.56587
NM_006947.4(SRP72):c.826-23A>G rs7700034 0.40194
NM_001085487.3(MYSM1):c.69-6T>C rs2064374 0.38703
NM_006947.4(SRP72):c.*780C>T rs10518 0.35479
NM_006947.4(SRP72):c.610+35C>T rs11610 0.33008
NM_001085487.3(MYSM1):c.2262C>T (p.Leu754=) rs7523134 0.24821
NM_001085487.3(MYSM1):c.2165-10G>A rs7525365 0.24036
NM_006947.4(SRP72):c.*173T>C rs10051 0.19449
NM_006947.4(SRP72):c.*732A>G rs14211 0.19317
NM_020207.7(ERCC6L2):c.1742T>C (p.Val581Ala) rs2274654 0.17275
NM_006947.4(SRP72):c.*1603A>G rs1142851 0.13141
NM_006947.4(SRP72):c.*442A>G rs7762 0.08062
NM_006947.4(SRP72):c.1671A>G (p.Lys557=) rs34419325 0.08059
NM_006947.4(SRP72):c.*386G>A rs4260596 0.07511
NM_006947.4(SRP72):c.*1313C>G rs113719942 0.06349
NM_006947.4(SRP72):c.1410A>G (p.Leu470=) rs17086879 0.02284
NM_006947.4(SRP72):c.*139G>A rs28438730 0.02206
NM_006947.4(SRP72):c.*972G>A rs189886380 0.00692
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=) rs73818109 0.00682
NM_006947.4(SRP72):c.686A>G (p.His229Arg) rs138986942 0.00369
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_006947.4(SRP72):c.*24G>A rs144710632 0.00215
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_006947.4(SRP72):c.2004A>G (p.Lys668=) rs148068843 0.00108
NM_006947.4(SRP72):c.1704A>G (p.Pro568=) rs41280351 0.00053
NM_006947.4(SRP72):c.144G>T (p.Leu48=) rs112496764 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_006947.4(SRP72):c.789A>G (p.Leu263=) rs77935196 0.00035
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_006947.4(SRP72):c.294G>A (p.Leu98=) rs145137299 0.00020
NM_006947.4(SRP72):c.*558T>C rs568178342 0.00018
NM_001085487.3(MYSM1):c.2031+8A>G rs201679870 0.00012
NM_006947.4(SRP72):c.110-5T>G rs186908289 0.00010
NM_006947.4(SRP72):c.133G>A (p.Val45Ile) rs201940585 0.00006
NM_006947.4(SRP72):c.*622_*649del rs59791697
NM_006947.4(SRP72):c.1650T>C (p.Asp550=) rs202073540
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp) rs17524437
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu) rs139502866
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006947.4(SRP72):c.21G>T (p.Gly7=) rs12513091
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu) rs760960779
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser) rs781230154
NM_020207.7(ERCC6L2):c.3552G>T (p.Pro1184=) rs12683634

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