ClinVar Miner

List of variants in gene MYSM1 reported as benign for immune system disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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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.2031+8A>G rs201679870 0.00012

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