ClinVar Miner

List of variants in gene SMC1A reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_53407004)_(53449569_?)dup
NC_000023.10:g.(?_53421678)_(53449569_?)dup
NC_000023.10:g.(?_53421698)_(53421808_?)del
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) rs782697006
NM_001281463.1(SMC1A):c.1188+4G>A rs781824288
NM_001281463.1(SMC1A):c.1188+5G>A rs1569358589
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.161A>G (p.Asn54Ser) rs200243549
NM_001281463.1(SMC1A):c.1781C>T (p.Ala594Val) rs782196047
NM_001281463.1(SMC1A):c.1806T>G (p.Asp602Glu) rs1369059288
NM_001281463.1(SMC1A):c.1810C>T (p.Arg604Cys) rs1556889577
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.195_206del (p.Glu65_Glu68del) rs1569359505
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.2354+5G>A rs1556889217
NM_001281463.1(SMC1A):c.2380C>T (p.Arg794Cys) rs1556888586
NM_001281463.1(SMC1A):c.2390T>G (p.Ile797Ser) rs587784413
NM_001281463.1(SMC1A):c.2642A>G (p.Lys881Arg) rs1569355072
NM_001281463.1(SMC1A):c.2643-4T>A rs1602405648
NM_001281463.1(SMC1A):c.2672C>T (p.Thr891Ile) rs1569355048
NM_001281463.1(SMC1A):c.2726A>G (p.Gln909Arg) rs782728089
NM_001281463.1(SMC1A):c.2911G>T (p.Ala971Ser) rs782127256
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3112G>A (p.Glu1038Lys) rs1057521921
NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met) rs372307204
NM_001281463.1(SMC1A):c.3169A>G (p.Thr1057Ala) rs1602398590
NM_001281463.1(SMC1A):c.3324C>T (p.Gly1108=) rs374246357
NM_001281463.1(SMC1A):c.3441+3G>A rs1556885809
NM_001281463.1(SMC1A):c.345+6C>T rs782515915
NM_001281463.1(SMC1A):c.3526G>C (p.Glu1176Gln) rs782175064
NM_001281463.1(SMC1A):c.3545A>T (p.Tyr1182Phe) rs781998306
NM_001281463.1(SMC1A):c.428C>T (p.Ala143Val) rs1556890833
NM_001281463.1(SMC1A):c.58A>G (p.Met20Val) rs1556891104
NM_001281463.1(SMC1A):c.793_795del (p.Lys265del) rs1556890626
NM_001281463.1(SMC1A):c.854A>G (p.His285Arg) rs1556890616
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)
NM_006306.4(SMC1A):c.1546-10C>G
NM_006306.4(SMC1A):c.15A>G (p.Lys5=)
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)
NM_006306.4(SMC1A):c.1731+3G>T
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro)
NM_006306.4(SMC1A):c.2862+3G>C
NM_006306.4(SMC1A):c.2862+4A>G
NM_006306.4(SMC1A):c.2863-9C>G
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile)
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala)
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly)
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=)
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Asp1219_Leu1220insAla)
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys)
NM_006306.4(SMC1A):c.854+6_854+7del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.