ClinVar Miner

List of variants in gene SMARCAL1 reported by Natera, Inc.

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Gene type:
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Total variants: 54
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HGVS dbSNP
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_014140.3(SMARCAL1):c.1030G>A (p.Glu344Lys) rs370663120
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs) rs766291662
NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524
NM_014140.3(SMARCAL1):c.1297G>A (p.Val433Met) rs374696042
NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819
NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846
NM_014140.3(SMARCAL1):c.1851+5G>A rs2066514
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.2141T>C (p.Ile714Thr) rs372158077
NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met) rs2271336
NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335
NM_014140.3(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758
NM_014140.3(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534
NM_014140.3(SMARCAL1):c.2427+9C>T rs201601053
NM_014140.3(SMARCAL1):c.2528+5G>C rs145908212
NM_014140.3(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780
NM_014140.3(SMARCAL1):c.2735C>T (p.Ser912Leu) rs763670564
NM_014140.3(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=) rs199805770
NM_014140.3(SMARCAL1):c.735C>T (p.Gly245=) rs149510554
NM_014140.3(SMARCAL1):c.863-9C>G rs188833040
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305
NM_014140.3(SMARCAL1):c.927C>T (p.Ser309=) rs139949668
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.1069T>A rs369180164
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755
NM_014140.4(SMARCAL1):c.117C>T (p.Gly39=) rs565316605
NM_014140.4(SMARCAL1):c.1360C>T (p.Leu454=) rs753714268
NM_014140.4(SMARCAL1):c.1374C>T (p.Asp458=) rs200566186
NM_014140.4(SMARCAL1):c.1488C>T (p.Ala496=)
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810
NM_014140.4(SMARCAL1):c.1553G>A rs774075396
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148
NM_014140.4(SMARCAL1):c.1775C>T (p.Thr592Met)
NM_014140.4(SMARCAL1):c.1776G>A (p.Thr592=) rs372995559
NM_014140.4(SMARCAL1):c.1850G>T (p.Arg617Leu)
NM_014140.4(SMARCAL1):c.1948G>A (p.Val650Ile) rs200734842
NM_014140.4(SMARCAL1):c.1985T>C (p.Val662Ala)
NM_014140.4(SMARCAL1):c.2002C>T (p.Arg668Trp)
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350
NM_014140.4(SMARCAL1):c.2738G>A (p.Gly913Glu)
NM_014140.4(SMARCAL1):c.2765T>C rs200431186
NM_014140.4(SMARCAL1):c.2849T>G (p.Phe950Cys)
NM_014140.4(SMARCAL1):c.382C>G (p.Gln128Glu)
NM_014140.4(SMARCAL1):c.767C>T (p.Ala256Val)
NM_014140.4(SMARCAL1):c.780A>G (p.Ala260=)
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)

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