ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (297):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001482.3(GATM):c.367G>A (p.Ala123Thr) rs1566840902
NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) rs1553960775
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val) rs864309507
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262

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