ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_001032221.6(STXBP1):c.1702+10C>T rs147607230 0.00081
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 0.00004
NM_001032221.6(STXBP1):c.902+10C>T rs760108945 0.00001
NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)

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