List of variants in gene PROP1 reported as likely pathogenic by Counsyl

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	rs121917840	0.00010
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	rs121917839	0.00005
NM_006261.5(PROP1):c.110-2A>G	rs1057516846	0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	rs766673446	0.00001
NM_006261.5(PROP1):c.156dup (p.Arg53fs)	rs1554182514
NM_006261.5(PROP1):c.191dup (p.Arg65fs)	rs1554182507
NM_006261.5(PROP1):c.197dup (p.His67fs)	rs1057517424
NM_006261.5(PROP1):c.288_289del (p.Ile96fs)	rs1057516832
NM_006261.5(PROP1):c.2T>C (p.Met1Thr)	rs1554182645
NM_006261.5(PROP1):c.310del (p.Arg104fs)	rs786204663
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter)	rs1554182481
NM_006261.5(PROP1):c.342+1G>A	rs1436089021
NM_006261.5(PROP1):c.343-2A>T	rs1057517041
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)	rs1554182405
NM_006261.5(PROP1):c.390_391del (p.Leu131fs)	rs1057517027
NM_006261.5(PROP1):c.557del (p.Ala186fs)	rs762529663
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	rs121917845
NM_006261.5(PROP1):c.74_75dup (p.His26fs)	rs1554182632

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