List of variants in gene PROM1 reported as pathogenic by GeneDx

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs)	rs746174328
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)	rs780697796
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)	rs368213921
NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG (p.Ser328fs)	rs1578054973

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