ClinVar Miner

List of variants studied for Neurodevelopmental disorder by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NC_000002.11:g.39053852_42501893dup
NC_000005.9:g.53180658_54552379dup
NC_000007.13:g.30439214_30632407dup
NC_000009.11:g.6558199_6619973dup
NC_000018.9:g.67742689_67765169dup
NC_000019.9:g.1406030_3597207dup
NC_000020.10:g.157772_706326dup
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001163435.3(TBCK):c.658+1G>A rs1579395680
NM_006493.4:c.679C>T
NM_007129.5:c.264T>G
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs) rs1597454239
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys) rs1581535605
NM_033109.5(PNPT1):c.420del (p.Leu141fs) rs1572834021
NM_033109.5:c.652A>T
NM_152269.5(MTRFR):c.-28-1489_283-968del
Single allele

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