List of variants reported as likely pathogenic for autosomal recessive disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	rs147231991	0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00105
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser)	rs6068812	0.00084
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	rs148660051	0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met)	rs199545653	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	rs765123255	0.00004
NM_032119.4(ADGRV1):c.12436C>T (p.Arg4146Ter)	rs369793306	0.00003
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)	rs778909195	0.00003
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	rs751838040	0.00002
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)	rs772136379	0.00001
NM_000277.1:c.[722delG;c.735G>A]
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)	rs1057519469
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs)	rs797044608
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter)	rs952741388
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)	rs797044604
NM_025114.4(CEP290):c.6818_6818+1dup	rs1060499781
NM_144672.4(OTOA):c.828del (p.Ser277fs)	rs751447996
Single allele

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