ClinVar Miner

List of variants in gene SMARCAL1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162
NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu) rs1553535161
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)
NM_014140.4(SMARCAL1):c.365_366TC[2] (p.Pro124fs)

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