List of variants reported as pathogenic for RHYNS syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	rs137853108	0.00026
NM_153704.6(TMEM67):c.224-2del	rs386834190	0.00010
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	rs202149403	0.00006
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter)	rs150332116	0.00004
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter)	rs751517725	0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	rs765468645	0.00002
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys)	rs863225235	0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter)	rs751309268	0.00001
NM_153704.6(TMEM67):c.312+5G>A	rs786200868	0.00001
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter)	rs1554558363

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