List of variants studied for autosomal recessive disease by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	rs79436363	0.00015
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)	rs201780665	0.00004
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)	rs121908425	0.00003
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter)	rs753579827	0.00001
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)	rs978909925	0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)	rs771148519	0.00001
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)	rs397515568	0.00001
NM_153717.3(EVC):c.175-9G>A	rs753317536	0.00001
NC_000005.10:g.55247753A>G	rs1579734448
NM_001353108.3(CEP63):c.595del (p.Glu199fs)	rs2109591981
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter)	rs1558651680
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)	rs1580817729
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His)	rs1559369181
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp)	rs1560228138

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