ClinVar Miner

List of variants in gene MYSM1 studied for bone marrow failure syndrome 4

Included ClinVar conditions (1):
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Total variants: 21
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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_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_001085487.3(MYSM1):c.69-6T>C rs2064374 0.38703
NM_001085487.3(MYSM1):c.2262C>T (p.Leu754=) rs7523134 0.24821
NM_001085487.3(MYSM1):c.2165-10G>A rs7525365 0.24036
NM_001085487.3(MYSM1):c.219-1G>A rs201886018 0.00016
NM_001085487.3(MYSM1):c.2031+8A>G rs201679870 0.00012
NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)
NM_001085487.3(MYSM1):c.1168G>T (p.Glu390Ter) rs1557518298
NM_001085487.3(MYSM1):c.1467C>G (p.Tyr489Ter) rs1361904700
NM_001085487.3(MYSM1):c.1516C>T (p.Arg506Ter)
NM_001085487.3(MYSM1):c.1885C>T (p.Gln629Ter) rs1644486654
NM_001085487.3(MYSM1):c.1967A>G (p.His656Arg) rs1557507208
NM_001085487.3(MYSM1):c.399G>A (p.Leu133=) rs1644867065
NM_001085487.3(MYSM1):c.412C>T (p.Arg138Ter)
NM_001085487.3(MYSM1):c.688G>C (p.Asp230His)
NM_001085487.3(MYSM1):c.869C>G (p.Ser290Ter) rs1569770360

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