ClinVar Miner

List of variants reported as likely benign for Intellectual disability, autosomal dominant 16 by Genome-Nilou Lab

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=) rs149874634 0.00051
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.1419+5G>A rs199814381 0.00006
NM_003072.5(SMARCA4):c.2438+10C>T rs370782232 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=) rs758438795 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_003072.5(SMARCA4):c.3358G>A (p.Gly1120Ser) rs373590049 0.00004
NM_003072.5(SMARCA4):c.372G>A (p.Leu124=) rs780881662 0.00004
NM_003072.5(SMARCA4):c.4170+5A>G rs749029481 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.3874-3T>C rs370679578 0.00003
NM_003072.5(SMARCA4):c.719C>T (p.Pro240Leu) rs201600949 0.00003
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=) rs374167170 0.00002
NM_003072.5(SMARCA4):c.1968T>C (p.Asp656=) rs750161079 0.00002
NM_003072.5(SMARCA4):c.2617-5C>T rs377743250 0.00002
NM_003072.5(SMARCA4):c.3873+6del rs751936459 0.00002
NM_003072.5(SMARCA4):c.4593C>T (p.Leu1531=) rs757189400 0.00002
NM_003072.5(SMARCA4):c.720G>A (p.Pro240=) rs1023059961 0.00002
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.1533G>A (p.Thr511=) rs1415983739 0.00001
NM_003072.5(SMARCA4):c.1695G>A (p.Thr565=) rs1173206989 0.00001
NM_003072.5(SMARCA4):c.2002-4G>A rs746254916 0.00001
NM_003072.5(SMARCA4):c.2157C>T (p.Gly719=) rs756240718 0.00001
NM_003072.5(SMARCA4):c.2506-14T>C rs751003991 0.00001
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=) rs767915497 0.00001
NM_003072.5(SMARCA4):c.3081+5G>A rs771818383 0.00001
NM_003072.5(SMARCA4):c.3528C>T (p.Ser1176=) rs573885719 0.00001
NM_003072.5(SMARCA4):c.3546+9G>A rs544551192 0.00001
NM_003072.5(SMARCA4):c.355+9C>T rs767575401 0.00001
NM_003072.5(SMARCA4):c.3951+6C>T rs759241380 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4185C>T (p.Gly1395=) rs889180299 0.00001
NM_003072.5(SMARCA4):c.4743C>T (p.Gly1581=) rs759862377 0.00001
NM_003072.5(SMARCA4):c.4912-4C>A rs1555797433 0.00001
NM_003072.5(SMARCA4):c.505C>T (p.Pro169Ser) rs142886157 0.00001
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711 0.00001
NM_003072.5(SMARCA4):c.1118+7del rs774132615
NM_003072.5(SMARCA4):c.144G>T (p.Gly48=) rs1398193826
NM_003072.5(SMARCA4):c.2166G>A (p.Gln722=) rs1555773282
NM_003072.5(SMARCA4):c.2850C>A (p.Thr950=) rs141259126
NM_003072.5(SMARCA4):c.3312A>G (p.Gln1104=) rs1600336124
NM_003072.5(SMARCA4):c.3383-5G>T rs762528243
NM_003072.5(SMARCA4):c.3732C>T (p.Arg1244=) rs797045983
NM_003072.5(SMARCA4):c.450A>T (p.Gly150=) rs369026160
NM_003072.5(SMARCA4):c.4872G>T (p.Pro1624=) rs182644267
NM_003072.5(SMARCA4):c.696T>C (p.Pro232=) rs573767517
NM_003072.5(SMARCA4):c.715G>A (p.Gly239Ser) rs761515593

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