ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Blueprint Genetics

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.246+1G>C rs1840868164
NM_001032221.6(STXBP1):c.624del (p.Lys208fs) rs1841237663
NM_001040142.2(SCN2A):c.4514del (p.Gly1505fs) rs1701581960
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) rs2065917262
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) rs2066907057
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.979-69_1082+70del rs2058553788
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) rs374555589
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer) rs1928480582
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter) rs2053431254
NM_001271.4(CHD2):c.2190-1G>C rs2053845402
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389

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