ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) rs1562848556 0.00001
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) rs929755522
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter) rs1584468891
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) rs141640000

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