ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant aplasia and myelodysplasia

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006947.4(SRP72):c.*606A>T rs868279024 0.05397
NM_006947.4(SRP72):c.*221A>G rs149250989 0.00152
NM_006947.4(SRP72):c.*194G>A rs188713088 0.00073
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_006947.4(SRP72):c.*1241C>T rs1282273094 0.00006
NM_006947.4(SRP72):c.*1678C>T rs886059503 0.00003
NM_006947.4(SRP72):c.*1764A>G rs192226722 0.00003
NM_006947.4(SRP72):c.*1478C>A rs1405583789 0.00002
NM_006947.4(SRP72):c.1636C>A (p.Gln546Lys) rs1185247120 0.00002
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_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

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