List of variants in gene ANOS1 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)	rs137852517	0.00038
NG_007088.2:g.(37490_113516)_(149394_151790)del
NG_007088.2:g.(37490_113516)_(151921_166482)del
NG_007088.2:g.(37490_113516)_(202869_204133)del
NM_000216.4(ANOS1):c.1062+1G>T	rs387906427
NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys)	rs137852515
NM_000216.4(ANOS1):c.1842+412_*1083del
NM_000216.4(ANOS1):c.544_726+2del	rs2146819139
NM_000216.4(ANOS1):c.711G>A (p.Trp237Ter)	rs137852512
NM_000216.4(ANOS1):c.769C>T (p.Arg257Ter)	rs137852513
NM_000216.4(ANOS1):c.774G>A (p.Trp258Ter)	rs137852514
NM_000216.4(ANOS1):c.784C>T (p.Arg262Ter)	rs137852516
NM_000216.4(ANOS1):c.831del (p.Ser278fs)	rs2146817110
NM_000216.4(ANOS1):c.95_105dup (p.Asp36fs)	rs2146919315

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