ClinVar Miner

List of variants in gene KDM6A studied for Inborn genetic diseases

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile) rs368984079 0.00010
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
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.1015C>T (p.Gln339Ter) rs1556308480
NM_001291415.2(KDM6A):c.1048G>A (p.Gly350Ser) rs2044210205
NM_001291415.2(KDM6A):c.1172C>T (p.Ala391Val)
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.2066C>G (p.Ser689Cys)
NM_001291415.2(KDM6A):c.20C>G (p.Ser7Trp) rs770931883
NM_001291415.2(KDM6A):c.2129G>A (p.Arg710Gln)
NM_001291415.2(KDM6A):c.2170G>T (p.Ala724Ser)
NM_001291415.2(KDM6A):c.2176T>A (p.Ser726Thr)
NM_001291415.2(KDM6A):c.2231_2232del (p.Gln744fs) rs1556328723
NM_001291415.2(KDM6A):c.2989-2A>G rs2045232957
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.388G>A (p.Ala130Thr) rs748724294
NM_001291415.2(KDM6A):c.3893-6dup rs748438075
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.565-4G>C
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001291415.2(KDM6A):c.86A>G (p.Lys29Arg)

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