ClinVar Miner

List of variants reported as pathogenic for central nervous system malformation by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_003384.3(VRK1):c.345del (p.Ser116fs)
NM_005559.4(LAMA1):c.1078del (p.Val360fs)
NM_005559.4(LAMA1):c.1189del (p.Cys397fs)
NM_005559.4(LAMA1):c.4075delinsCTA (p.Leu1359_Glu1360insTer)
NM_016042.4(EXOSC3):c.155del (p.Pro52fs) rs886041316
NM_020320.5(RARS2):c.3G>A (p.Met1Ile) rs2128238503
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
NM_025265.4(TSEN2):c.958A>T (p.Lys320Ter)
NM_033026.6(PCLO):c.1451del (p.Pro484fs)

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