List of variants in gene CNOT1 studied for Holoprosencephaly 12 with or without pancreatic agenesis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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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.1240A>G (p.Ile414Val)	rs2041627985
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)	rs1567417422
NM_016284.5(CNOT1):c.3509A>G (p.Tyr1170Cys)	rs2151928367
NM_016284.5(CNOT1):c.3634C>G (p.His1212Asp)
NM_016284.5(CNOT1):c.4255A>T (p.Thr1419Ser)
NM_016284.5(CNOT1):c.4396T>G (p.Ser1466Ala)
NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=)	rs2151916522
NM_016284.5(CNOT1):c.5342A>G (p.Glu1781Gly)	rs2039972981

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