ClinVar Miner

List of variants in gene SMARCAL1 reported by Preventiongenetics, part of Exact Sciences

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09474
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04294
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_014140.4(SMARCAL1):c.2141+17T>C rs2066516 0.02186
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00657
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) rs35048226 0.00259
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00009
NM_014140.4(SMARCAL1):c.765T>C (p.Asn255=) rs764441226 0.00006
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014140.4(SMARCAL1):c.1225C>G (p.Leu409Val)
NM_014140.4(SMARCAL1):c.1902G>A (p.Lys634=) rs886038600
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.340C>T (p.Arg114Cys)
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513

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