List of variants in gene CDKN1C reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter)	rs137852766
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs)	rs387906399
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter)	rs104894200
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)	rs387907225
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val)	rs387907223
NM_001122630.2(CDKN1C):c.793delinsAG (p.Phe265fs)	rs2133780364
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser)	rs387907224
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu)	rs387907226
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro)	rs318240750
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter)	rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)	rs267606716

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