ClinVar Miner

List of variants reported as likely benign for CHARGE association by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.671-10G>A rs372840645
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.999-9A>G rs776954864
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=) rs373942842
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1410A>G (p.Glu470=) rs368648424
NM_017780.4(CHD7):c.1659G>C (p.Val553=) rs1320484884
NM_017780.4(CHD7):c.1737G>A (p.Gln579=) rs747922099
NM_017780.4(CHD7):c.1920A>G (p.Glu640=) rs749214938
NM_017780.4(CHD7):c.1959G>A (p.Pro653=) rs747024874
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146
NM_017780.4(CHD7):c.2175A>G (p.Ser725=) rs1471731176
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser) rs373873996
NM_017780.4(CHD7):c.2457G>A (p.Glu819=) rs1060504849
NM_017780.4(CHD7):c.2614-7G>T rs762399977
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=) rs1586391319
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=) rs753213307
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=) rs537533901
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=) rs1355369979
NM_017780.4(CHD7):c.3989+7A>G rs757622396
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=) rs974334602
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=) rs371910721
NM_017780.4(CHD7):c.4534-7T>G rs757333865
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=) rs966292699
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=) rs1554602576
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=) rs752330796
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=) rs764844969
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) rs750047137
NM_017780.4(CHD7):c.6669C>T (p.Val2223=) rs556577614
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=) rs752966093
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=) rs757868659
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=) rs1271940749
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=) rs757280832
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=) rs1450918582
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600
NM_017780.4(CHD7):c.7609-4G>T rs955067555
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=) rs772124801
NM_017780.4(CHD7):c.7831-3C>T rs148884686
NM_017780.4(CHD7):c.7972-10C>G rs912810188
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=) rs559053565
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=) rs375800664
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=) rs747420884
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=) rs200792215
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=) rs202076455
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=) rs199565939
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=) rs756572992
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=) rs1586468596
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=) rs372889781
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=) rs368038649

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