List of variants in gene PROM1 reported as pathogenic by Mendelics

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	rs374017889	0.00003
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)	rs886037880	0.00001
NM_006017.3(PROM1):c.1984-1G>T	rs373680665	0.00001
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)	rs780697796
NM_006017.3(PROM1):c.784+1G>A	rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs)	rs1355802816

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