ClinVar Miner

List of variants reported by Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.5840del (p.Gly1947fs) rs2128393408
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter) rs2053190428
NM_005430.4(WNT1):c.104+4_104+44del rs1555178899
NM_014423.4(AFF4):c.2023_2025del (p.Pro675del) rs775664387
NM_022455.5(NSD1):c.5474dup (p.Met1826fs) rs1757806263

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