List of variants reported as likely pathogenic for autosomal dominant keratitis-ichthyosis-hearing loss syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)	rs141774369	0.00014
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)	rs104894408	0.00009
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)	rs199883710	0.00006
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	rs998045226	0.00003
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)	rs111033203	0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg)	rs770330002	0.00002
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)	rs727504309	0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	rs781534323	0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	rs397516871	0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)	rs80338946	0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val)	rs532203068	0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr)	rs1378679640	0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met)	rs749693224	0.00001
NM_004004.6(GJB2):c.-22-2A>G	rs201895089
NM_004004.6(GJB2):c.-23+2T>G
NM_004004.6(GJB2):c.-23G>T	rs786204734
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del)	rs1566528901
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.155_158del (p.Val52fs)
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser)	rs2137308512
NM_004004.6(GJB2):c.253T>C (p.Ser85Pro)
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	rs104894401
NM_004004.6(GJB2):c.486_493dup (p.Arg165fs)
NM_004004.6(GJB2):c.498_499dup (p.Val167fs)
NM_004004.6(GJB2):c.516G>A (p.Trp172Ter)	rs1302739538
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)	rs886037624
NM_004004.6(GJB2):c.535G>C (p.Asp179His)	rs28931595
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)	rs1566528185
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	rs587783647
NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)

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