ClinVar Miner

List of variants in gene SMARCB1 reported as uncertain significance for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.628+1487A>G rs185591492 0.00009
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser) rs763872301 0.00001
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003073.5(SMARCB1):c.31G>A (p.Gly11Arg) rs1555875308
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala) rs1929117173
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser) rs2146009925
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.84C>G (p.Ile28Met)
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)

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