ClinVar Miner

List of variants studied for central nervous system malformation by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446 0.00010
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.5068+8C>T rs747827911 0.00003
NM_000548.5(TSC2):c.2479G>A (p.Val827Met) rs543738044 0.00002
NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) rs749633483 0.00002
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509 0.00001
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=) rs766665967 0.00001
NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) rs760413281 0.00001
NM_000368.5(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2440C>T (p.Leu814=) rs199517042
NM_000548.5(TSC2):c.1172_1174del (p.Val391del) rs1567428371
NM_000548.5(TSC2):c.1458del (p.Ser487fs) rs1567437155
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1840-4A>G rs1057523736
NM_000548.5(TSC2):c.2098-3C>A rs876660489
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2295C>G (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_000548.5(TSC2):c.2479GTG[1] (p.Val828del) rs1596356726
NM_000548.5(TSC2):c.2768C>T (p.Ser923Phe) rs587778731
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.4027GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter)
NM_000548.5(TSC2):c.481+5G>C rs137854135
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.5161-1G>A rs45517404
NM_000548.5(TSC2):c.599+5_599+7del rs2151062123
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.976-15G>A rs45517150

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