List of variants reported as likely pathogenic for X-linked disease by Deafness Gene Diagnosis, Xijing Hospital

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)	rs184474885	0.00004
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)	rs724160019	0.00002
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)	rs724160023	0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)	rs724160017	0.00001
NM_004208.4(AIFM1):c.-123G>C	rs724160014
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)	rs724160026
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	rs724160021
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val)	rs724160025
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)	rs724160022
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)	rs724160024
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)	rs724160015
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)	rs724160016
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)	rs724160018

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