ClinVar Miner

List of variants in gene SMCHD1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_015295.3(SMCHD1):c.3277-231A>G rs117286838 0.02530
NM_015295.3(SMCHD1):c.1843-18T>A rs116599328 0.02018
NM_015295.3(SMCHD1):c.1343-242G>A rs117590407 0.01901
NM_015295.3(SMCHD1):c.3049-45T>G rs116202511 0.01842
NM_015295.3(SMCHD1):c.4346+163G>A rs114813343 0.01794
NM_015295.3(SMCHD1):c.754-53G>T rs141243907 0.01793
NM_015295.3(SMCHD1):c.3276+321G>A rs117584885 0.01792
NM_015295.3(SMCHD1):c.754-52C>T rs146251858 0.01792
NM_015295.3(SMCHD1):c.2774-296G>A rs116916319 0.01791
NM_015295.3(SMCHD1):c.5993+185G>A rs147416786 0.01786
NM_015295.3(SMCHD1):c.2063+153A>C rs117972250 0.01785
NM_015295.3(SMCHD1):c.186+243C>G rs111527232 0.01460
NM_015295.3(SMCHD1):c.3514+61A>G rs113825505 0.01300
NM_015295.3(SMCHD1):c.1647+252T>G rs184722548 0.01262
NM_015295.3(SMCHD1):c.3801+123T>C rs118141308 0.01249
NM_015295.3(SMCHD1):c.4566+217C>G rs75261709 0.01132
NM_015295.3(SMCHD1):c.3277-163G>A rs115449888 0.01074
NM_015295.3(SMCHD1):c.5176-40_5176-39del rs60477392 0.00959
NM_015295.3(SMCHD1):c.4166-214A>G rs79451143 0.00921
NM_015295.3(SMCHD1):c.2774-211G>A rs77568208 0.00920
NM_015295.3(SMCHD1):c.1956+79G>A rs115927532 0.00893
NM_015295.3(SMCHD1):c.5548-110T>C rs75038094 0.00873
NM_015295.3(SMCHD1):c.187-260C>T rs114921993 0.00833
NM_015295.3(SMCHD1):c.3425+94C>T rs116544024 0.00811
NM_015295.3(SMCHD1):c.4566+152C>A rs142088730 0.00797
NM_015295.3(SMCHD1):c.4566+116A>G rs76381514 0.00667
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=) rs78073508 0.00657
NM_015295.3(SMCHD1):c.2604-83A>G rs140531442 0.00613
NM_015295.3(SMCHD1):c.1132-175T>C rs73365813 0.00612
NM_015295.3(SMCHD1):c.639-138A>G rs148277348 0.00521
NM_015295.3(SMCHD1):c.2459-37G>A rs113998277 0.00520
NM_015295.3(SMCHD1):c.3426-112T>C rs148600037 0.00483
NM_015295.3(SMCHD1):c.2147-7C>T rs113524119 0.00473
NM_015295.3(SMCHD1):c.3801+209A>C rs116108559 0.00460
NM_015295.3(SMCHD1):c.*7A>G rs140650738 0.00458
NM_015295.3(SMCHD1):c.507+137A>G rs138332007 0.00450
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=) rs117771893 0.00426
NM_015295.3(SMCHD1):c.5993+135G>C rs144395718 0.00426
NM_015295.3(SMCHD1):c.1648-31A>G rs76103139 0.00423
NM_015295.3(SMCHD1):c.2774-108A>G rs565642461 0.00415
NM_015295.3(SMCHD1):c.2261-96C>T rs192281274 0.00375
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_015295.3(SMCHD1):c.1956+7C>T rs145755468 0.00201
NM_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00097
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_015295.3(SMCHD1):c.2925T>A (p.Ala975=) rs763236583 0.00010
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=) rs763699437 0.00005
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=) rs567120742 0.00004
NM_015295.3(SMCHD1):c.3435T>C (p.Pro1145=) rs747652827 0.00004
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=) rs371834462 0.00003
NM_015295.3(SMCHD1):c.3732T>C (p.Phe1244=) rs765602142 0.00002
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=) rs760899591 0.00001
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met) rs536643888 0.00001
NM_015295.3(SMCHD1):c.1464-7G>C rs1347095679
NM_015295.3(SMCHD1):c.2064-200del rs375152655
NM_015295.3(SMCHD1):c.2914-312_2914-311dup rs370623037
NM_015295.3(SMCHD1):c.3030A>G (p.Lys1010=)
NM_015295.3(SMCHD1):c.3048+314del rs72203094
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=) rs759659672
NM_015295.3(SMCHD1):c.3804C>T (p.Ser1268=) rs1598399244
NM_015295.3(SMCHD1):c.4007+63G>A
NM_015295.3(SMCHD1):c.4165+149G>A
NM_015295.3(SMCHD1):c.4254T>G (p.Ser1418=)
NM_015295.3(SMCHD1):c.4567-85G>C rs112622633
NM_015295.3(SMCHD1):c.5052+52A>G
NM_015295.3(SMCHD1):c.5548-60C>T
NM_015295.3(SMCHD1):c.638+154A>C

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