ClinVar Miner

List of variants reported as benign for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1390-34T>C rs2302431 0.84626
NM_001395413.1(POR):c.1390-33G>T rs2302432 0.84588
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713

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