ClinVar Miner

List of variants in gene SMC1A reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320 0.00008
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=) rs1392864809 0.00007
NM_006306.4(SMC1A):c.764G>A (p.Arg255His) rs782606119 0.00007
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser) rs782127256 0.00006
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256 0.00006
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908 0.00005
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.298+12T>C rs782781148 0.00004
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=) rs374246357 0.00004
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=) rs782695048 0.00003
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=) rs782191187 0.00003
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=) rs987473076 0.00003
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=) rs370873072 0.00003
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser) rs200243549 0.00003
NM_006306.4(SMC1A):c.2421-20C>T rs1282673050 0.00003
NM_006306.4(SMC1A):c.3618+8G>A rs782319907 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006306.4(SMC1A):c.594A>G (p.Glu198=) rs1556890814 0.00003
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=) rs369057648 0.00002
NM_006306.4(SMC1A):c.1546-5C>T rs1556889651 0.00002
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.15A>G (p.Lys5=) rs782396631 0.00002
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=) rs1388876894 0.00002
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=) rs1198625423 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=) rs1556888013 0.00002
NM_006306.4(SMC1A):c.27T>C (p.Ile9=) rs1396001151 0.00002
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=) rs782146571 0.00002
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=) rs782788248 0.00002
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=) rs1390804289 0.00002
NM_006306.4(SMC1A):c.299-15T>G rs782364230 0.00002
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=) rs782049998 0.00002
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly) rs782241632 0.00002
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=) rs368345004 0.00002
NM_006306.4(SMC1A):c.3618+7C>T rs782267492 0.00002
NM_006306.4(SMC1A):c.3619-16C>T rs1556885717 0.00002
NM_006306.4(SMC1A):c.453G>A (p.Arg151=) rs782287101 0.00002
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp) rs782811561 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006306.4(SMC1A):c.102T>C (p.Asn34=) rs782100278 0.00001
NM_006306.4(SMC1A):c.1410T>C (p.Ile470=) rs782223677 0.00001
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=) rs781957759 0.00001
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=) rs781835493 0.00001
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=) rs782379340 0.00001
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=) rs1458553359 0.00001
NM_006306.4(SMC1A):c.1911+7A>G rs2075687773 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522 0.00001
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=) rs1388761806 0.00001
NM_006306.4(SMC1A):c.2313+14G>T rs1556889255 0.00001
NM_006306.4(SMC1A):c.2421-15C>A rs1002384123 0.00001
NM_006306.4(SMC1A):c.2421-4A>G rs782673405 0.00001
NM_006306.4(SMC1A):c.2505A>G (p.Val835=) rs782491758 0.00001
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln) rs904926146 0.00001
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=) rs886362301 0.00001
NM_006306.4(SMC1A):c.2709-10C>A rs2083250975 0.00001
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=) rs781912370 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 0.00001
NM_006306.4(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563 0.00001
NM_006306.4(SMC1A):c.2956C>T (p.Leu986=) rs1556887757 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985 0.00001
NM_006306.4(SMC1A):c.3286-7C>T rs782657390 0.00001
NM_006306.4(SMC1A):c.3437+10A>T rs782079503 0.00001
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=) rs781977704 0.00001
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=) rs138015913 0.00001
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=) rs1313105752 0.00001
NM_006306.4(SMC1A):c.402C>T (p.Leu134=) rs1211706449 0.00001
NM_006306.4(SMC1A):c.42G>C (p.Ser14=) rs1463770411 0.00001
NM_006306.4(SMC1A):c.480T>A (p.Arg160=) rs782369322 0.00001
NM_006306.4(SMC1A):c.495G>A (p.Ala165=) rs782260918 0.00001
NM_006306.4(SMC1A):c.552T>C (p.Phe184=) rs1556890821 0.00001
NM_006306.4(SMC1A):c.63C>T (p.Ile21=) rs781999328 0.00001
NM_006306.4(SMC1A):c.675C>T (p.Leu225=) rs782182228 0.00001
NM_006306.4(SMC1A):c.753G>A (p.Lys251=) rs782297601 0.00001
NM_006306.4(SMC1A):c.855-13C>T rs1556890636 0.00001
NM_006306.4(SMC1A):c.986G>A (p.Arg329His) rs782449052 0.00001
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=) rs782132247
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=) rs2146604747
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=)
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=)
NM_006306.4(SMC1A):c.1080T>C (p.Ser360=)
NM_006306.4(SMC1A):c.109+19C>A rs933977903
NM_006306.4(SMC1A):c.109+19C>T
NM_006306.4(SMC1A):c.1099T>C (p.Leu367=)
NM_006306.4(SMC1A):c.110-12C>T
NM_006306.4(SMC1A):c.110-16G>A rs929835697
NM_006306.4(SMC1A):c.110-17C>T
NM_006306.4(SMC1A):c.110-19C>T
NM_006306.4(SMC1A):c.1113+16G>C
NM_006306.4(SMC1A):c.1114-15C>T rs1489497654
NM_006306.4(SMC1A):c.1114-21_1114-19del
NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=)
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=) rs2075714290
NM_006306.4(SMC1A):c.1191T>C (p.Asn397=)
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=) rs2146604588
NM_006306.4(SMC1A):c.1239G>A (p.Lys413=)
NM_006306.4(SMC1A):c.1254+17A>G rs2146604554
NM_006306.4(SMC1A):c.1254+8A>G rs2075713975
NM_006306.4(SMC1A):c.1255-19T>G
NM_006306.4(SMC1A):c.12G>C (p.Leu4=) rs2146614125
NM_006306.4(SMC1A):c.1337+15A>C
NM_006306.4(SMC1A):c.1337+17C>T rs2075702882
NM_006306.4(SMC1A):c.1338-12C>G
NM_006306.4(SMC1A):c.1338-12del
NM_006306.4(SMC1A):c.1338-4G>A rs2146602390
NM_006306.4(SMC1A):c.1402C>A (p.Arg468=)
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=)
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val)
NM_006306.4(SMC1A):c.1419C>T (p.Ile473=)
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=) rs2075702025
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=) rs2146602309
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=)
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=)
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=) rs2146602244
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=) rs200645744
NM_006306.4(SMC1A):c.1545+18A>G
NM_006306.4(SMC1A):c.1546-13C>G
NM_006306.4(SMC1A):c.1546-17C>T
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=) rs782582676
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=)
NM_006306.4(SMC1A):c.1782G>A (p.Val594=)
NM_006306.4(SMC1A):c.184C>A (p.Arg62=)
NM_006306.4(SMC1A):c.1899C>T (p.His633=)
NM_006306.4(SMC1A):c.1911+11C>T
NM_006306.4(SMC1A):c.1911+18C>T
NM_006306.4(SMC1A):c.1912-10C>G
NM_006306.4(SMC1A):c.1912-4G>T rs2075687357
NM_006306.4(SMC1A):c.1920A>T (p.Ala640=)
NM_006306.4(SMC1A):c.192G>C (p.Leu64=) rs2146606701
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=)
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=)
NM_006306.4(SMC1A):c.1962T>G (p.Gly654=)
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=) rs2146599598
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=) rs782816467
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=)
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=) rs1255531738
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=) rs2146599315
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=) rs968499171
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=)
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=)
NM_006306.4(SMC1A):c.2278A>C (p.Arg760=)
NM_006306.4(SMC1A):c.2314-12T>C
NM_006306.4(SMC1A):c.2314-5C>T
NM_006306.4(SMC1A):c.2328G>A (p.Val776=) rs2146598325
NM_006306.4(SMC1A):c.2346G>C (p.Arg782=)
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=) rs2146598260
NM_006306.4(SMC1A):c.2421-14A>C
NM_006306.4(SMC1A):c.2421-16C>G
NM_006306.4(SMC1A):c.2421-16C>T
NM_006306.4(SMC1A):c.243C>T (p.Ser81=)
NM_006306.4(SMC1A):c.2454C>T (p.Gly818=)
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=)
NM_006306.4(SMC1A):c.2523A>G (p.Thr841=)
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.2562+13A>G
NM_006306.4(SMC1A):c.2563-13C>T
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=) rs2146593670
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=) rs1602405816
NM_006306.4(SMC1A):c.2592T>C (p.Asp864=)
NM_006306.4(SMC1A):c.2640G>A (p.Lys880=) rs2075651961
NM_006306.4(SMC1A):c.2688G>A (p.Lys896=) rs1602405737
NM_006306.4(SMC1A):c.2700C>G (p.Gly900=)
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.2708+12C>G
NM_006306.4(SMC1A):c.2708+13A>G
NM_006306.4(SMC1A):c.2708+16C>T
NM_006306.4(SMC1A):c.2709-16C>G
NM_006306.4(SMC1A):c.2709-4T>A rs1602405648
NM_006306.4(SMC1A):c.2739A>G (p.Thr913=) rs2146593498
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=)
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=)
NM_006306.4(SMC1A):c.2862+15T>C
NM_006306.4(SMC1A):c.2862+3G>C rs2075650901
NM_006306.4(SMC1A):c.2863-13G>A
NM_006306.4(SMC1A):c.2863-17C>G
NM_006306.4(SMC1A):c.2863-19C>T
NM_006306.4(SMC1A):c.2863-6T>C
NM_006306.4(SMC1A):c.2863-9C>G rs371102918
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=) rs2075645097
NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=)
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=)
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=)
NM_006306.4(SMC1A):c.2943T>C (p.Ile981=)
NM_006306.4(SMC1A):c.2973+12C>T
NM_006306.4(SMC1A):c.2973+16A>G
NM_006306.4(SMC1A):c.2973+16A>T
NM_006306.4(SMC1A):c.2973+18G>C
NM_006306.4(SMC1A):c.2973+20G>A
NM_006306.4(SMC1A):c.2974-20G>C
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=) rs2146583246
NM_006306.4(SMC1A):c.298+9G>A rs1556891082
NM_006306.4(SMC1A):c.299-12A>G
NM_006306.4(SMC1A):c.299-14G>A rs2146606574
NM_006306.4(SMC1A):c.299-19C>T
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=) rs2146583203
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)
NM_006306.4(SMC1A):c.3130+11C>G
NM_006306.4(SMC1A):c.3131-15C>T
NM_006306.4(SMC1A):c.3131-4del
NM_006306.4(SMC1A):c.3131-5G>C
NM_006306.4(SMC1A):c.3131-7C>T
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=) rs1432130956
NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)
NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)
NM_006306.4(SMC1A):c.3246T>C (p.Asp1082=)
NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=) rs797045994
NM_006306.4(SMC1A):c.336C>G (p.Val112=)
NM_006306.4(SMC1A):c.3437+12C>A rs2146582406
NM_006306.4(SMC1A):c.3438-12G>T rs2146581650
NM_006306.4(SMC1A):c.3438-8C>T
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3508-13G>T
NM_006306.4(SMC1A):c.3508-18T>C
NM_006306.4(SMC1A):c.3508-20C>T
NM_006306.4(SMC1A):c.3508-6C>T
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=)
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=) rs2146581326
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.357G>A (p.Glu119=)
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=) rs146216425
NM_006306.4(SMC1A):c.3615T>A (p.Pro1205=) rs1602397790
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=) rs2146581010
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=) rs1348100944
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=) rs28997583
NM_006306.4(SMC1A):c.3666G>A (p.Lys1222=) rs1602397606
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)
NM_006306.4(SMC1A):c.378T>A (p.Ile126=)
NM_006306.4(SMC1A):c.399C>T (p.Phe133=) rs1463042305
NM_006306.4(SMC1A):c.412-12G>T
NM_006306.4(SMC1A):c.412-7T>C
NM_006306.4(SMC1A):c.412-9C>T
NM_006306.4(SMC1A):c.441C>T (p.Asn147=)
NM_006306.4(SMC1A):c.444C>G (p.Pro148=)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys) rs2075720794
NM_006306.4(SMC1A):c.462A>G (p.Leu154=) rs2146605662
NM_006306.4(SMC1A):c.474T>C (p.Ile158=)
NM_006306.4(SMC1A):c.483T>C (p.Ser161=) rs782286610
NM_006306.4(SMC1A):c.489G>A (p.Glu163=)
NM_006306.4(SMC1A):c.528G>A (p.Val176=) rs1359837999
NM_006306.4(SMC1A):c.582T>C (p.Ala194=)
NM_006306.4(SMC1A):c.615+14C>T
NM_006306.4(SMC1A):c.615+8G>A
NM_006306.4(SMC1A):c.616-19C>T
NM_006306.4(SMC1A):c.616-4A>G
NM_006306.4(SMC1A):c.616-7del rs1312306004
NM_006306.4(SMC1A):c.666G>A (p.Gln222=) rs2146605417
NM_006306.4(SMC1A):c.669G>C (p.Leu223=) rs1556890780
NM_006306.4(SMC1A):c.678T>C (p.Phe226=) rs2146605400
NM_006306.4(SMC1A):c.732A>G (p.Ser244=) rs1193851590
NM_006306.4(SMC1A):c.813C>A (p.Gly271=)
NM_006306.4(SMC1A):c.813C>T (p.Gly271=)
NM_006306.4(SMC1A):c.81C>T (p.Phe27=) rs2075764568
NM_006306.4(SMC1A):c.846G>A (p.Lys282=) rs1602413372
NM_006306.4(SMC1A):c.855-12C>T
NM_006306.4(SMC1A):c.855-14C>T
NM_006306.4(SMC1A):c.855-17C>T
NM_006306.4(SMC1A):c.867A>G (p.Ser289=) rs2146604827
NM_006306.4(SMC1A):c.951G>A (p.Lys317=) rs2146604793
NM_006306.4(SMC1A):c.972G>A (p.Lys324=)

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