ClinVar Miner

List of variants studied for SMARCB1-related schwannomatosis by Illumina Laboratory Services, Illumina

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_003073.5(SMARCB1):c.-117C>T rs11090285 0.08005
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.-31C>T rs34276473 0.00535
NM_003073.5(SMARCB1):c.-115C>T rs551328283 0.00242
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.-184G>A rs563943196 0.00165
NM_003073.5(SMARCB1):c.*159C>G rs1022324232 0.00055
NM_003073.5(SMARCB1):c.*293C>T rs754865420 0.00051
NM_003073.5(SMARCB1):c.*33T>G rs11541580 0.00034
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.*15C>A rs369400289 0.00028
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_003073.5(SMARCB1):c.*113C>T rs886057286 0.00008
NM_003073.5(SMARCB1):c.-17C>T rs372777519 0.00006
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.-148T>C rs886057283 0.00003
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) rs145695677 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.*279G>A rs886057287 0.00001
NM_003073.5(SMARCB1):c.-83C>T rs1374186002 0.00001
NM_003073.5(SMARCB1):c.*100C>G rs1363655817
NM_003073.5(SMARCB1):c.*197A>C rs1306414841
NM_003073.5(SMARCB1):c.*307A>G rs2030874248
NM_003073.5(SMARCB1):c.-107A>G rs886057284
NM_003073.5(SMARCB1):c.-157G>A rs886057281
NM_003073.5(SMARCB1):c.1118+8T>C rs2030796889
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) rs1930218305
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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