List of variants in gene combination CYP1B1, LOC128772254 reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu)	rs56175199	0.00005
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	rs28936701	0.00005
NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter)	rs377049098	0.00003
NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln)	rs72549376	0.00001
NM_000104.4(CYP1B1):c.1325del (p.Pro442fs)	rs770799584

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