List of variants in gene combination NRL, PCK2 reported by Mayo Clinic Laboratories, Mayo Clinic

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004563.4(PCK2):c.1562G>A (p.Arg521His)	rs35618680	0.08888
NM_004563.4(PCK2):c.372T>C (p.Pro124=)	rs2229661	0.02789
NM_004563.4(PCK2):c.1230A>G (p.Lys410=)	rs2301336	0.02556
NM_004563.4(PCK2):c.6C>T (p.Ala2=)	rs77298044	0.02238
NM_004563.4(PCK2):c.1216G>A (p.Gly406Ser)	rs17101262	0.00668
NM_004563.4(PCK2):c.190G>A (p.Asp64Asn)	rs10132601	0.00541
NM_004563.4(PCK2):c.747C>T (p.Phe249=)	rs149974910	0.00478
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)	rs61752842	0.00208
NM_004563.4(PCK2):c.1234+1G>T	rs138881435	0.00193
NM_004563.4(PCK2):c.1438T>C (p.Ser480Pro)	rs1158229809	0.00001
NM_001354768.3(NRL):c.-27-15516_-27-15515inv
NM_004563.4(PCK2):c.1479C>T (p.Ile493=)	rs1555342382
NM_004563.4(PCK2):c.451_452dup (p.Met152fs)	rs1555341463
NM_004563.4(PCK2):c.453C>G (p.Cys151Trp)	rs1555341465
NM_004563.4(PCK2):c.457del (p.Gln153fs)	rs1555341473
NM_004563.4(PCK2):c.459_460insA (p.Gly154fs)	rs1555341483

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