ClinVar Miner

List of variants reported as pathogenic for Neurodevelopmental disorder by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001163435.3(TBCK):c.658+1G>A	rs1579395680
NM_006493.4:c.679C>T
NM_033109.5:c.652A>T
NM_152269.5(MTRFR):c.-28-1489_283-968del
Single allele

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