ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic by Invitae

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Total variants: 25
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HGVS dbSNP
NC_000019.9:g.(?_11094797)_(11172958_?)del
NC_000019.9:g.(?_11129623)_(11141579_?)del
NC_000019.9:g.(?_11129627)_(11141575_?)del
NM_001128849.2(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_001128849.2(SMARCA4):c.1189C>T (p.Arg397Ter)
NM_001128849.2(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_001128849.2(SMARCA4):c.1754_1757del (p.Lys585fs)
NM_001128849.2(SMARCA4):c.1831C>T (p.Gln611Ter) rs1568455217
NM_001128849.2(SMARCA4):c.2032C>T (p.Gln678Ter) rs1555771571
NM_001128849.2(SMARCA4):c.2164C>T (p.Gln722Ter) rs1555773269
NM_001128849.2(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_001128849.2(SMARCA4):c.2329del (p.Leu777fs) rs1555774702
NM_001128849.2(SMARCA4):c.2932C>T (p.Arg978Ter)
NM_001128849.2(SMARCA4):c.300_301del (p.Gly102fs) rs780424104
NM_001128849.2(SMARCA4):c.4180_4181delinsC (p.Gly1394fs) rs1555787120
NM_001128849.2(SMARCA4):c.4208del (p.Ser1403fs) rs1060502088
NM_001128849.2(SMARCA4):c.4339C>T (p.Arg1447Ter) rs878854224
NM_001128849.2(SMARCA4):c.4567C>T (p.Arg1523Ter)
NM_001128849.2(SMARCA4):c.4756C>T (p.Gln1586Ter) rs1555795884
NM_001128849.2(SMARCA4):c.4834G>T (p.Glu1612Ter)
NM_001128849.2(SMARCA4):c.4930G>A (p.Gly1644Ser) rs372319442
NM_001128849.2(SMARCA4):c.493C>T (p.Gln165Ter) rs1568422286
NM_001128849.2(SMARCA4):c.662del (p.Pro221fs) rs1060502085
NM_001128849.2(SMARCA4):c.823C>T (p.Gln275Ter) rs1555754293
NM_001128849.2(SMARCA4):c.982_986del (p.Pro328fs) rs1555755067

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