ClinVar Miner

List of variants studied for polymicrogyria by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_201525.4(ADGRG1):c.-11G>A rs112775979 0.00013
NM_201525.4(ADGRG1):c.761G>A (p.Arg254Gln) rs145001300 0.00004
NM_201525.4(ADGRG1):c.1048G>A (p.Val350Ile) rs587783649 0.00003
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_178012.5(TUBB2B):c.111T>C (p.His37=) rs11550264 0.00001
NM_201525.4(ADGRG1):c.1246C>T (p.Leu416=) rs587783651 0.00001
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) rs587783654 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) rs587783659 0.00001
NM_201525.4(ADGRG1):c.620+1G>A rs587783660 0.00001
NM_201525.4(ADGRG1):c.64+15G>T rs200303272 0.00001
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp) rs532188689 0.00001
NM_173630.4(RTTN):c.5185+1G>A rs1555707336
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu) rs587784498
NM_178012.5(TUBB2B):c.1248C>T (p.Asn416=) rs17145779
NM_178012.5(TUBB2B):c.126G>T (p.Leu42Phe) rs76191712
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg) rs797046075
NM_178012.5(TUBB2B):c.498C>T (p.Thr166=) rs587784499
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu) rs1554126925
NM_178012.5(TUBB2B):c.859C>T (p.Pro287Ser) rs587784501
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys) rs1554126886
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe) rs587784502
NM_201525.4(ADGRG1):c.1063+9G>C rs587783650
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) rs797045600
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) rs587783655
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) rs587783656
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) rs587783658
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.900G>C (p.Gln300His) rs587783661
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) rs797045602

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