List of variants studied for Kabuki syndrome 2 by Autoinflammatory diseases unit, CHU de Montpellier

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.2002_2005del (p.Thr668fs)	rs2044404250
NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter)	rs2044726547
NM_001291415.2(KDM6A):c.3095-1G>T	rs2045273679
NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly)	rs2045279014
NM_001291415.2(KDM6A):c.3426_3429del (p.Ser1143fs)	rs2045473471
NM_001291415.2(KDM6A):c.3590-2A>G	rs2045619034
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter)	rs863224886
NM_001291415.2(KDM6A):c.443+5G>C	rs2041729565
NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)	rs189751539
NM_001291415.2(KDM6A):c.564+1G>T	rs2042138847
NM_001291415.2(KDM6A):c.619+6T>C	rs2042747021
NM_001291415.2(KDM6A):c.620-2A>G	rs2042875800
NM_001291415.2(KDM6A):c.875+1G>A	rs2043963299

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