ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by TIDEX, University of British Columbia

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359 0.00001
NM_033453.4(ITPA):c.488C>T (p.Thr163Met) rs758706191 0.00001
NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) rs1557137675
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171

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