ClinVar Miner

List of variants in gene SMARCAL1 studied for not provided

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Gene type:
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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_014140.4(SMARCAL1):c.1851+293T>G rs284551 0.72070
NM_014140.4(SMARCAL1):c.2528+68T>C rs284523 0.36760
NM_014140.4(SMARCAL1):c.2528+131A>G rs205980 0.36752
NM_014140.4(SMARCAL1):c.2071-136T>C rs2129119 0.30191
NM_014140.4(SMARCAL1):c.2529-153T>G rs284524 0.24357
NM_014140.4(SMARCAL1):c.1711-132G>A rs2738284 0.24087
NM_014140.4(SMARCAL1):c.1335-91G>A rs2271334 0.21490
NM_014140.4(SMARCAL1):c.1852-153A>G rs66931264 0.09543
NC_000002.12:g.216483194T>C rs17559422 0.09481
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09474
NM_014140.4(SMARCAL1):c.812-104T>C rs71577872 0.09217
NM_014140.4(SMARCAL1):c.1096+152A>G rs3816784 0.05438
NM_014140.4(SMARCAL1):c.812-156T>C rs2306638 0.05421
NM_014140.4(SMARCAL1):c.2428-95G>A rs58959714 0.05403
NM_014140.4(SMARCAL1):c.2528+198C>T rs78149672 0.05399
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.1645-56T>C rs3816783 0.03291
NM_014140.4(SMARCAL1):c.1335-23A>G rs2066521 0.03286
NM_014140.4(SMARCAL1):c.2626-33C>T rs71579835 0.03207
NM_014140.4(SMARCAL1):c.-58-210G>A rs73072254 0.03100
NM_014140.4(SMARCAL1):c.-58-254G>A rs58617956 0.03050
NM_014140.4(SMARCAL1):c.2626-268G>A rs116315714 0.02507
NM_014140.4(SMARCAL1):c.862+183G>A rs73072255 0.02379
NM_014140.4(SMARCAL1):c.1711-106C>T rs79491615 0.02193
NM_014140.4(SMARCAL1):c.2141+17T>C rs2066516 0.02186
NM_014140.4(SMARCAL1):c.2626-191G>T rs79008053 0.02062
NM_014140.4(SMARCAL1):c.812-89G>A rs75546339 0.02043
NM_014140.4(SMARCAL1):c.811+156T>C rs79736801 0.02034
NM_014140.4(SMARCAL1):c.2428-350G>T rs75259438 0.01750
NM_014140.4(SMARCAL1):c.1711-119C>T rs284549 0.01720
NM_014140.4(SMARCAL1):c.1711-283C>A rs16856180 0.01658
NM_014140.4(SMARCAL1):c.2071-296G>A rs74434188 0.01640
NM_014140.4(SMARCAL1):c.2070+43A>T rs78230573 0.01628
NM_014140.4(SMARCAL1):c.1096+32A>C rs2066515 0.01592
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_014140.4(SMARCAL1):c.1096+28C>A rs2066519 0.01195
NM_014140.4(SMARCAL1):c.2141+53_2141+54insC rs199625205 0.01163
NM_014140.4(SMARCAL1):c.1710+256C>T rs16856144 0.01032
NM_014140.4(SMARCAL1):c.2245-278A>C rs142801547 0.00979
NM_014140.4(SMARCAL1):c.2528+36G>A rs115145411 0.00979
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_014140.4(SMARCAL1):c.811+103A>G rs139574584 0.00860
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.811+194T>A rs144306591 0.00569
NM_014140.4(SMARCAL1):c.1645-246G>A rs116559712 0.00518
NM_014140.4(SMARCAL1):c.1334+274G>A rs141473566 0.00486
NM_014140.4(SMARCAL1):c.1645-132T>A rs146596046 0.00447
NM_014140.4(SMARCAL1):c.2070+280G>A rs111317170 0.00365
NM_014140.4(SMARCAL1):c.2141+55A>C rs113194270 0.00330
NM_014140.4(SMARCAL1):c.2528+35C>T rs116468485 0.00260
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00047
NM_014140.4(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354 0.00042
NM_014140.4(SMARCAL1):c.2765T>C (p.Met922Thr) rs200431186 0.00039
NM_014140.4(SMARCAL1):c.1427G>A (p.Arg476Gln) rs142164846 0.00035
NM_014140.4(SMARCAL1):c.2427+9C>T rs201601053 0.00024
NM_014140.4(SMARCAL1):c.1001G>A (p.Arg334Gln) rs138575228 0.00022
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_014140.4(SMARCAL1):c.2401T>G (p.Phe801Val) rs200679534 0.00011
NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) rs143100109 0.00010
NM_014140.4(SMARCAL1):c.2070+2dup rs762716070 0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683 0.00009
NM_014140.4(SMARCAL1):c.2340C>T (p.Ala780=) rs780778758 0.00007
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014140.4(SMARCAL1):c.2263A>G (p.Ile755Val) rs578123335 0.00005
NM_014140.4(SMARCAL1):c.1908G>A (p.Leu636=) rs375844575 0.00004
NM_014140.4(SMARCAL1):c.863-2A>G rs761546902 0.00004
NM_014140.4(SMARCAL1):c.1496G>A (p.Arg499Gln) rs145264115 0.00003
NM_014140.4(SMARCAL1):c.2529-4A>G rs886042978 0.00003
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368 0.00002
NM_014140.4(SMARCAL1):c.1485+10C>T rs886042157 0.00001
NM_014140.4(SMARCAL1):c.2321C>T (p.Ser774Leu) rs149425324 0.00001
NM_014140.4(SMARCAL1):c.415_416del (p.Leu139fs) rs781023326 0.00001
NM_014140.4(SMARCAL1):c.506A>G (p.Lys169Arg) rs777999697 0.00001
NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) rs751534116 0.00001
NM_014140.4(SMARCAL1):c.884C>T (p.Pro295Leu) rs1297497711 0.00001
GRCh37/hg19 2q35(chr2:217279767-217336105)x1
NM_014140.4(SMARCAL1):c.-96+155G>A rs2106012141
NM_014140.4(SMARCAL1):c.1128G>A (p.Leu376=) rs794727801
NM_014140.4(SMARCAL1):c.1148-282G>T rs79653204
NM_014140.4(SMARCAL1):c.114G>T (p.Ser38=) rs374642503
NM_014140.4(SMARCAL1):c.1190T>C (p.Leu397Pro) rs1057524680
NM_014140.4(SMARCAL1):c.1334+8C>G rs1574453912
NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter) rs1553526228
NM_014140.4(SMARCAL1):c.1485+288T>C rs16856111
NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter) rs1694058443
NM_014140.4(SMARCAL1):c.1499_1500delinsTT (p.Trp500Phe) rs1553526733
NM_014140.4(SMARCAL1):c.1645-274C>T rs77349113
NM_014140.4(SMARCAL1):c.1711-111G>T rs284550
NM_014140.4(SMARCAL1):c.1711-80C>T rs140524986
NM_014140.4(SMARCAL1):c.1762G>A (p.Ala588Thr) rs769553029
NM_014140.4(SMARCAL1):c.1775C>G (p.Thr592Arg) rs199876834
NM_014140.4(SMARCAL1):c.1831C>T (p.Arg611Cys)
NM_014140.4(SMARCAL1):c.1852-205A>C rs2738286
NM_014140.4(SMARCAL1):c.1860G>C (p.Trp620Cys) rs909012139
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.2132_2133delinsTT (p.Pro711Leu) rs2106073109
NM_014140.4(SMARCAL1):c.2141+56dup rs34170201
NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg) rs886043438
NM_014140.4(SMARCAL1):c.2245-192T>C
NM_014140.4(SMARCAL1):c.2428-1G>C rs1559138908
NM_014140.4(SMARCAL1):c.2448C>A (p.Asp816Glu) rs1057524681
NM_014140.4(SMARCAL1):c.2449C>A (p.Arg817Ser) rs794727171
NM_014140.4(SMARCAL1):c.2449C>T (p.Arg817Cys)
NM_014140.4(SMARCAL1):c.2625+116dup rs5838586
NM_014140.4(SMARCAL1):c.2745T>C (p.Ser915=) rs886044051
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.4(SMARCAL1):c.527C>G (p.Thr176Arg) rs747775289
NM_014140.4(SMARCAL1):c.649A>C (p.Arg217=)
NM_014140.4(SMARCAL1):c.810T>C (p.Tyr270=) rs886043060
NM_014140.4(SMARCAL1):c.811+36_811+38del rs5838583
NM_014140.4(SMARCAL1):c.811+37_811+38del rs5838583
NM_014140.4(SMARCAL1):c.811+38del rs5838583
NM_014140.4(SMARCAL1):c.862+128del rs3214962
NM_014140.4(SMARCAL1):c.863-228C>A rs73072258
NM_014140.4(SMARCAL1):c.863-228C>T rs73072258
NM_014140.4(SMARCAL1):c.863-39C>G rs73988775
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513

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