ClinVar Miner

List of variants studied for Holoprosencephaly 12 with or without pancreatic agenesis by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_016284.5(CNOT1):c.4006+12A>G rs2241570 0.38899
NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=) rs11540994 0.38894
NM_016284.5(CNOT1):c.2919G>A (p.Gln973=) rs11866002 0.38888
NM_016284.5(CNOT1):c.909A>G (p.Gly303=) rs17854029 0.34638
NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=) rs246258 0.24002
NM_016284.5(CNOT1):c.5896-5C>T rs37060 0.23617
NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=) rs2151916522

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