List of variants in gene CDKN2A reported as likely pathogenic by GeneDx

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	rs749714198	0.00001
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)	rs199907548
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	rs587778189
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)	rs104894095
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	rs104894099
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser)	rs559848002
NM_000077.5(CDKN2A):c.251A>C (p.Asp84Ala)	rs587782792
NM_000077.5(CDKN2A):c.281T>C (p.Leu94Pro)	rs1819703656
NM_000077.5(CDKN2A):c.379G>C (p.Ala127Pro)	rs6413464
NM_000077.5(CDKN2A):c.457+1_457+10del	rs1587330284
NM_000077.5(CDKN2A):c.52_57dup (p.Thr18_Ala19dup)	rs1563892769
NM_000077.5(CDKN2A):c.67G>A (p.Gly23Ser)	rs1131691186
NM_000077.5(CDKN2A):c.67G>C (p.Gly23Arg)	rs1131691186
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)	rs1064794292
NM_058195.4(CDKN2A):c.172C>T (p.Gln58Ter)	rs2131148082
NM_058195.4(CDKN2A):c.193+5G>A	rs587782083
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs)	rs779306249

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