Variants in gene OTC with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

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HGVS	dbSNP	gnomAD frequency
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)	rs67939655	0.00011
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)	rs67486158	0.00005
NM_000531.6(OTC):c.374C>T (p.Thr125Met)	rs72554356	0.00001
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)	rs72558487
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)	rs2068592611
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)	rs66469337
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)	rs1602014500
NM_000531.6(OTC):c.572T>G (p.Leu191Arg)	rs72556297
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)	rs72558410
NM_000531.6(OTC):c.791C>T (p.Thr264Ile)	rs67156896
NM_000531.6(OTC):c.793T>C (p.Trp265Arg)	rs72558445
NM_000531.6(OTC):c.867G>A (p.Lys289=)	rs72558456

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