List of variants in gene PSAP reported as pathogenic by OMIM

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_002778.4(PSAP):c.650C>T (p.Thr217Ile)	rs121918103	0.00001
NM_002778.4(PSAP):c.1006-2A>G	rs1589446748
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)	rs121918110
NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly)	rs121918108
NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe)	rs121918105
NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter)	rs121918109
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)	rs121918106
NM_002778.4(PSAP):c.207_209del (p.Val70del)	rs757687480
NM_002778.4(PSAP):c.209T>G (p.Val70Gly)	rs2133049150
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn)	rs1554881272
NM_002778.4(PSAP):c.577-1G>T	rs1589451049
NM_002778.4(PSAP):c.577-2A>G	rs1589451050
NM_002778.4(PSAP):c.643A>C (p.Asn215His)	rs121918107
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)	rs121918104
NM_002778.4(PSAP):c.777+1915C>A	rs759960679
NM_002778.4(PSAP):c.794del (p.Cys265fs)
NM_002778.4(PSAP):c.828_829del (p.Glu276fs)	rs1589448124

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