List of variants in gene combination NCAPH2, SCO2 reported by CeGaT Center for Human Genetics Tuebingen

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_005138.3(SCO2):c.763C>A (p.Arg255=)	rs112793292	0.00755
NM_005138.3(SCO2):c.201C>T (p.Phe67=)	rs61748568	0.00240
NM_005138.3(SCO2):c.341G>A (p.Arg114His)	rs145100473	0.00076
NM_005138.3(SCO2):c.460G>A (p.Glu154Lys)	rs148930837	0.00021
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)	rs74315511	0.00011
NM_005138.3(SCO2):c.537C>G (p.Arg179=)	rs142239527	0.00010
NM_005138.3(SCO2):c.516C>T (p.Asp172=)	rs759399979	0.00003
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)	rs28937598	0.00001
NM_005138.3(SCO2):c.269G>A (p.Arg90Gln)
NM_005138.3(SCO2):c.296T>G (p.Val99Gly)	rs2148671809
NM_005138.3(SCO2):c.300C>T (p.Gly100=)	rs1381468312
NM_005138.3(SCO2):c.334C>A (p.Arg112=)	rs370130010
NM_005138.3(SCO2):c.407T>C (p.Ile136Thr)
NM_005138.3(SCO2):c.412C>T (p.Pro138Ser)	rs2069208954
NM_005138.3(SCO2):c.522T>C (p.Val174=)
NM_005138.3(SCO2):c.790G>A (p.Val264Ile)

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