List of variants in gene KDM6A reported as uncertain significance by Ambry Genetics

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His)	rs763587293	0.00003
NM_001291415.2(KDM6A):c.2420C>T (p.Thr807Met)	rs757564026	0.00002
NM_001291415.2(KDM6A):c.2116C>T (p.Pro706Ser)	rs752105957	0.00001
NM_001291415.2(KDM6A):c.1048G>A (p.Gly350Ser)	rs2044210205
NM_001291415.2(KDM6A):c.1172C>T (p.Ala391Val)
NM_001291415.2(KDM6A):c.2066C>G (p.Ser689Cys)
NM_001291415.2(KDM6A):c.20C>G (p.Ser7Trp)	rs770931883
NM_001291415.2(KDM6A):c.2170G>T (p.Ala724Ser)
NM_001291415.2(KDM6A):c.2176T>A (p.Ser726Thr)
NM_001291415.2(KDM6A):c.3214A>G (p.Ile1072Val)
NM_001291415.2(KDM6A):c.3352A>G (p.Thr1118Ala)
NM_001291415.2(KDM6A):c.3446A>G (p.Lys1149Arg)
NM_001291415.2(KDM6A):c.3766A>G (p.Asn1256Asp)
NM_001291415.2(KDM6A):c.4035G>A (p.Lys1345=)
NM_001291415.2(KDM6A):c.4192A>G (p.Asn1398Asp)
NM_001291415.2(KDM6A):c.444-4T>A
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn)	rs587778423
NM_001291415.2(KDM6A):c.86A>G (p.Lys29Arg)

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