ClinVar Miner

List of variants in gene GOSR2, LOC126862578, LRRC37A2 studied for Progressive myoclonic epilepsy

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) rs143754727 0.00052
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_004287.5(GOSR2):c.203+3A>G rs201423456 0.00009
NM_004287.5(GOSR2):c.149G>A (p.Arg50His) rs377765254 0.00006
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) rs755662176 0.00004
NM_004287.5(GOSR2):c.204-7A>G rs746177544 0.00004
NM_004287.5(GOSR2):c.272G>A (p.Arg91His) rs145168042 0.00004
NM_004287.5(GOSR2):c.105C>T (p.Asn35=) rs780832143 0.00003
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys) rs747328256 0.00003
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln) rs760503363 0.00003
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714 0.00002
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile) rs1407806851 0.00002
NM_004287.5(GOSR2):c.231C>T (p.Val77=) rs774359254 0.00002
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp) rs201101417 0.00002
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser) rs148962223 0.00001
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg) rs772763319 0.00001
NM_004287.5(GOSR2):c.140G>A (p.Arg47His) rs771228855 0.00001
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys) rs1286041018 0.00001
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg) rs1396367618 0.00001
NM_004287.5(GOSR2):c.177C>T (p.Pro59=) rs1467890727 0.00001
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046 0.00001
NM_004287.5(GOSR2):c.186A>G (p.Lys62=) rs755897636 0.00001
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp) rs770149230 0.00001
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro) rs780211637 0.00001
NM_004287.5(GOSR2):c.237C>T (p.His79=) rs1186777949 0.00001
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr) rs920586501 0.00001
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val) rs577835455 0.00001
NM_004287.5(GOSR2):c.249G>A (p.Ala83=) rs1057520593 0.00001
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser) rs374912150 0.00001
NM_004287.5(GOSR2):c.266A>G (p.His89Arg) rs1598989011 0.00001
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) rs764802895 0.00001
NM_004287.5(GOSR2):c.95-7T>C rs752611190 0.00001
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly) rs1598980284
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp) rs2087304609
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr) rs2087307019
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly) rs534119817
NM_004287.5(GOSR2):c.161del (p.Leu54fs) rs2146892080
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile) rs751458272
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu) rs1252615412
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln) rs1555709548
NM_004287.5(GOSR2):c.203+17G>T
NM_004287.5(GOSR2):c.203+8C>G
NM_004287.5(GOSR2):c.204-17C>G
NM_004287.5(GOSR2):c.204-1G>T rs1187190721
NM_004287.5(GOSR2):c.204-8A>C
NM_004287.5(GOSR2):c.204-9C>T
NM_004287.5(GOSR2):c.205C>A (p.Arg69=) rs770149230
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln) rs780211637
NM_004287.5(GOSR2):c.210del (p.Asp71fs) rs2146911959
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu) rs199930484
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
NM_004287.5(GOSR2):c.226G>C (p.Asp76His) rs2146912195
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro) rs2087482910
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys) rs1598988935
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
NM_004287.5(GOSR2):c.262del (p.Gln88fs) rs776869841
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys) rs2087485301
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val) rs2146913099
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys) rs2146913169
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp) rs2146913197
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys) rs759305157
NM_004287.5(GOSR2):c.300G>A (p.Gln100=)
NM_004287.5(GOSR2):c.300G>C (p.Gln100His) rs2087488656
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
NM_004287.5(GOSR2):c.95-17T>C rs553054493
NM_004287.5(GOSR2):c.95-1G>C rs1186314496
NM_004287.5(GOSR2):c.95-6G>T rs1345182096
NM_004287.5(GOSR2):c.95-7T>G rs752611190
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met) rs2146890867
NM_004287.5(GOSR2):c.99A>G (p.Val33=) rs1555709339

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