ClinVar Miner

List of variants in gene SLC5A7 reported as likely benign for congenital myasthenic syndrome 20

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe) rs143876748 0.00118
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile) rs138945146 0.00096
NM_021815.5(SLC5A7):c.1113+9A>G rs192964655 0.00046
NM_021815.5(SLC5A7):c.1299T>C (p.Tyr433=) rs144772225 0.00024
NM_021815.5(SLC5A7):c.293-18C>G rs200631097 0.00023
NM_021815.5(SLC5A7):c.486C>T (p.His162=) rs369362436 0.00016
NM_021815.5(SLC5A7):c.178+18C>T rs372695865 0.00011
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=) rs139476914 0.00011
NM_021815.5(SLC5A7):c.742-6G>A rs371989232 0.00011
NM_021815.5(SLC5A7):c.786C>G (p.Leu262=) rs190152555 0.00011
NM_021815.5(SLC5A7):c.1197G>A (p.Thr399=) rs141187628 0.00009
NM_021815.5(SLC5A7):c.759A>G (p.Pro253=) rs372145153 0.00009
NM_021815.5(SLC5A7):c.636C>T (p.Val212=) rs200804007 0.00008
NM_021815.5(SLC5A7):c.471C>T (p.Ile157=) rs904669194 0.00007
NM_021815.5(SLC5A7):c.54T>C (p.Ile18=) rs370177227 0.00007
NM_021815.5(SLC5A7):c.597+14C>A rs370808911 0.00007
NM_021815.5(SLC5A7):c.1434A>G (p.Pro478=) rs761926640 0.00006
NM_021815.5(SLC5A7):c.1467A>G (p.Leu489=) rs181802200 0.00006
NM_021815.5(SLC5A7):c.178+16G>C rs756377938 0.00005
NM_021815.5(SLC5A7):c.351G>A (p.Pro117=) rs368109143 0.00005
NM_021815.5(SLC5A7):c.1119G>A (p.Ser373=) rs759819899 0.00004
NM_021815.5(SLC5A7):c.178+17C>A rs555753695 0.00004
NM_021815.5(SLC5A7):c.498C>A (p.Ile166=) rs138947334 0.00004
NM_021815.5(SLC5A7):c.540G>C (p.Gly180=) rs574474443 0.00004
NM_021815.5(SLC5A7):c.598-3C>T rs191434558 0.00004
NM_021815.5(SLC5A7):c.810T>C (p.Ala270=) rs146618904 0.00004
NM_021815.5(SLC5A7):c.1114-14G>A rs773703560 0.00003
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr) rs199693962 0.00003
NM_021815.5(SLC5A7):c.179-19A>C rs775209241 0.00003
NM_021815.5(SLC5A7):c.179-20C>T rs375281148 0.00003
NM_021815.5(SLC5A7):c.448+9C>A rs759922183 0.00003
NM_021815.5(SLC5A7):c.1731T>C (p.Asp577=) rs766941461 0.00002
NM_021815.5(SLC5A7):c.180T>C (p.Ala60=) rs146871193 0.00002
NM_021815.5(SLC5A7):c.597+7G>A rs377267197 0.00002
NM_021815.5(SLC5A7):c.1026T>C (p.Ala342=) rs745405514 0.00001
NM_021815.5(SLC5A7):c.1242C>T (p.Tyr414=) rs771422735 0.00001
NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=) rs767552380 0.00001
NM_021815.5(SLC5A7):c.1305C>T (p.Ala435=) rs750258339 0.00001
NM_021815.5(SLC5A7):c.1360C>T (p.Leu454=) rs868433113 0.00001
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=) rs561099749 0.00001
NM_021815.5(SLC5A7):c.138C>T (p.Gly46=) rs776077643 0.00001
NM_021815.5(SLC5A7):c.1602T>C (p.Asn534=) rs772245675 0.00001
NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=) rs1025757053 0.00001
NM_021815.5(SLC5A7):c.192A>T (p.Gly64=) rs773790295 0.00001
NM_021815.5(SLC5A7):c.207T>C (p.Asn69=) rs1677475501 0.00001
NM_021815.5(SLC5A7):c.292+11G>A rs777715689 0.00001
NM_021815.5(SLC5A7):c.321T>C (p.Arg107=) rs759885480 0.00001
NM_021815.5(SLC5A7):c.393T>C (p.Phe131=) rs1425880594 0.00001
NM_021815.5(SLC5A7):c.449-14C>T rs1168011809 0.00001
NM_021815.5(SLC5A7):c.504T>C (p.Ser168=) rs752342608 0.00001
NM_021815.5(SLC5A7):c.645C>A (p.Ile215=) rs1392135172 0.00001
NM_021815.5(SLC5A7):c.711C>G (p.Val237=) rs1305450818 0.00001
NM_021815.5(SLC5A7):c.729T>C (p.Ser243=) rs972194774 0.00001
NM_021815.5(SLC5A7):c.741+11C>G rs781484974 0.00001
NM_021815.5(SLC5A7):c.741+12T>C rs745918946 0.00001
NM_021815.5(SLC5A7):c.742-19C>A rs758950508 0.00001
NM_021815.5(SLC5A7):c.742-7C>T rs367795192 0.00001
NM_021815.5(SLC5A7):c.765A>G (p.Gln255=) rs1354576821 0.00001
NM_021815.5(SLC5A7):c.792T>A (p.Ser264=) rs199981715 0.00001
NM_021815.5(SLC5A7):c.837C>T (p.Phe279=) rs369809428 0.00001
NM_021815.5(SLC5A7):c.84A>G (p.Arg28=) rs202046349 0.00001
NM_021815.5(SLC5A7):c.864C>G (p.Ala288=) rs1380320655 0.00001
NM_021815.5(SLC5A7):c.978T>C (p.Tyr326=) rs542281272 0.00001
NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=)
NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)
NM_021815.5(SLC5A7):c.102C>T (p.Ser34=) rs778941657
NM_021815.5(SLC5A7):c.1086C>T (p.Asn362=) rs761044523
NM_021815.5(SLC5A7):c.1113+13del rs2104379640
NM_021815.5(SLC5A7):c.1113+14C>A
NM_021815.5(SLC5A7):c.1113+14del
NM_021815.5(SLC5A7):c.1114-13C>A
NM_021815.5(SLC5A7):c.1114-16_1114-15del
NM_021815.5(SLC5A7):c.1161G>A (p.Val387=) rs2104382693
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)
NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=)
NM_021815.5(SLC5A7):c.1251C>T (p.Ile417=) rs1334655911
NM_021815.5(SLC5A7):c.1257C>T (p.Pro419=) rs557717267
NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=) rs1553459987
NM_021815.5(SLC5A7):c.1269T>C (p.Cys423=) rs1678273384
NM_021815.5(SLC5A7):c.1290C>G (p.Thr430=) rs1573618054
NM_021815.5(SLC5A7):c.1302G>A (p.Gly434=) rs767552380
NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)
NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)
NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)
NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=)
NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=) rs2104383662
NM_021815.5(SLC5A7):c.1497G>A (p.Lys499=) rs2104383766
NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=)
NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=)
NM_021815.5(SLC5A7):c.1533A>G (p.Leu511=) rs748269839
NM_021815.5(SLC5A7):c.154T>C (p.Leu52=) rs894241313
NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)
NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=)
NM_021815.5(SLC5A7):c.1615T>C (p.Leu539=) rs904369740
NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=)
NM_021815.5(SLC5A7):c.1659C>G (p.Leu553=) rs2104384314
NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=) rs2104384314
NM_021815.5(SLC5A7):c.1677T>C (p.Asn559=) rs1678299598
NM_021815.5(SLC5A7):c.1725T>G (p.Thr575=) rs1678302888
NM_021815.5(SLC5A7):c.178+13G>A
NM_021815.5(SLC5A7):c.189C>T (p.Val63=) rs1573591981
NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)
NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)
NM_021815.5(SLC5A7):c.292+11G>C rs777715689
NM_021815.5(SLC5A7):c.293-17A>T
NM_021815.5(SLC5A7):c.294T>C (p.Gly98=) rs2104342304
NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)
NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)
NM_021815.5(SLC5A7):c.333T>C (p.Tyr111=) rs1573593406
NM_021815.5(SLC5A7):c.351G>C (p.Pro117=) rs368109143
NM_021815.5(SLC5A7):c.354T>C (p.Phe118=)
NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)
NM_021815.5(SLC5A7):c.390G>A (p.Leu130=) rs1553457998
NM_021815.5(SLC5A7):c.39G>A (p.Val13=)
NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)
NM_021815.5(SLC5A7):c.429A>G (p.Ala143=) rs2104342884
NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)
NM_021815.5(SLC5A7):c.448+12C>T rs775806807
NM_021815.5(SLC5A7):c.448+7A>G
NM_021815.5(SLC5A7):c.448+9C>T rs759922183
NM_021815.5(SLC5A7):c.449-11G>A
NM_021815.5(SLC5A7):c.449-13_449-12del
NM_021815.5(SLC5A7):c.449-9_449-8del
NM_021815.5(SLC5A7):c.528A>G (p.Thr176=) rs780484840
NM_021815.5(SLC5A7):c.531G>T (p.Leu177=) rs1027922396
NM_021815.5(SLC5A7):c.540G>A (p.Gly180=) rs574474443
NM_021815.5(SLC5A7):c.540G>T (p.Gly180=) rs574474443
NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)
NM_021815.5(SLC5A7):c.555C>T (p.Ala185=) rs1032544775
NM_021815.5(SLC5A7):c.567C>T (p.Val189=)
NM_021815.5(SLC5A7):c.591A>G (p.Val197=)
NM_021815.5(SLC5A7):c.594G>T (p.Gly198=)
NM_021815.5(SLC5A7):c.597+14C>T rs370808911
NM_021815.5(SLC5A7):c.598-18T>G rs892853771
NM_021815.5(SLC5A7):c.598-7G>A rs759555286
NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)
NM_021815.5(SLC5A7):c.648G>C (p.Gly216=) rs1573607048
NM_021815.5(SLC5A7):c.741+11C>T
NM_021815.5(SLC5A7):c.741+8A>C
NM_021815.5(SLC5A7):c.742-10T>C rs2104373298
NM_021815.5(SLC5A7):c.742-15G>A
NM_021815.5(SLC5A7):c.742-17T>C
NM_021815.5(SLC5A7):c.742-5C>T rs1287734210
NM_021815.5(SLC5A7):c.742-6G>T
NM_021815.5(SLC5A7):c.747G>A (p.Leu249=) rs2104373334
NM_021815.5(SLC5A7):c.759A>T (p.Pro253=) rs372145153
NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)
NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)
NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)
NM_021815.5(SLC5A7):c.895+12G>A
NM_021815.5(SLC5A7):c.895+17T>C
NM_021815.5(SLC5A7):c.895+20A>G
NM_021815.5(SLC5A7):c.896-13T>C
NM_021815.5(SLC5A7):c.896-17T>C
NM_021815.5(SLC5A7):c.896-18G>T
NM_021815.5(SLC5A7):c.903C>T (p.Asn301=) rs2104379044
NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)
NM_021815.5(SLC5A7):c.939A>G (p.Thr313=) rs778842636
NM_021815.5(SLC5A7):c.963A>G (p.Pro321=)
NM_021815.5(SLC5A7):c.981C>T (p.Leu327=) rs1011037891

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