ClinVar Miner

List of variants reported as uncertain significance for electroclinical syndrome by Genome-Nilou Lab

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 0.00001
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser) rs773328719 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly) rs772780483
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298

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