ClinVar Miner

List of variants reported as likely benign for Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522 0.00008
NM_005982.4(SIX1):c.690G>C (p.Ser230=) rs571997198 0.00005
NM_005982.4(SIX1):c.720C>T (p.His240=) rs759290962 0.00004
NM_005982.4(SIX1):c.816C>T (p.Leu272=) rs750377629 0.00004
NM_005982.4(SIX1):c.465G>A (p.Arg155=) rs748903952 0.00002
NM_005982.4(SIX1):c.414C>T (p.Val138=) rs572940248 0.00001
NM_005982.4(SIX1):c.560+7G>C rs767884287 0.00001
NM_005982.4(SIX1):c.854A>G (p.Ter285=) rs1894938537 0.00001
NM_005982.4(SIX1):c.138C>T (p.Asn46=)
NM_005982.4(SIX1):c.225C>T (p.Phe75=)
NM_005982.4(SIX1):c.228G>A (p.Ser76=)
NM_005982.4(SIX1):c.228G>T (p.Ser76=)
NM_005982.4(SIX1):c.24C>G (p.Gly8=) rs770093951
NM_005982.4(SIX1):c.267G>A (p.Lys89=)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.357C>T (p.Arg119=) rs375984653
NM_005982.4(SIX1):c.447A>G (p.Pro149=)
NM_005982.4(SIX1):c.483C>T (p.Thr161=)
NM_005982.4(SIX1):c.498C>A (p.Thr166=)
NM_005982.4(SIX1):c.543C>G (p.Ala181=)
NM_005982.4(SIX1):c.561-10dup
NM_005982.4(SIX1):c.561-14C>T
NM_005982.4(SIX1):c.561-19G>A
NM_005982.4(SIX1):c.570C>G (p.Thr190=)
NM_005982.4(SIX1):c.609C>T (p.Leu203=)
NM_005982.4(SIX1):c.696T>G (p.Leu232=)
NM_005982.4(SIX1):c.746C>A (p.Pro249Gln) rs368974927
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_005982.4(SIX1):c.786C>A (p.Thr262=)
NM_005982.4(SIX1):c.811C>T (p.Leu271=)
NM_005982.4(SIX1):c.849G>A (p.Gly283=)
NM_005982.4(SIX1):c.852C>T (p.Ser284=)

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