List of variants studied for autosomal recessive disease by Institute of Human Genetics, University Hospital Muenster

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_001282426.2(PIK3CG):c.1076G>A (p.Arg359His)	rs144565710	0.00059
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_016373.4(WWOX):c.172+1G>C	rs1377640182	0.00001
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)	rs199475615
NM_000492.4(CFTR):c.2619+2T>C
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys)	rs779393628
NM_001282426.2(PIK3CG):c.2496T>G (p.Phe832Leu)
NM_005548.3(KARS1):c.1696-2A>C	rs1299524768
NM_017739.4(POMGNT1):c.1838G>A (p.Arg613Lys)
NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer)	rs2125095313
NM_206933.4(USH2A):c.3934del (p.Ala1312fs)	rs2102464166

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