List of variants reported as likely pathogenic for autosomal recessive disease by Yale Center for Mendelian Genomics, Yale University

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001040694.2(INCENP):c.2415G>C (p.Gln805His)	rs61893682	0.00255
NM_182920.2(ADAMTS9):c.194C>G (p.Thr65Arg)	rs192420947	0.00021
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val)	rs369901030	0.00008
NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser)	rs143192660	0.00007
NM_016166.3(PIAS1):c.317C>T (p.Ser106Leu)	rs774456004	0.00003
NM_032130.3(FAM186B):c.506-2A>G	rs549662742	0.00002
NM_004525.3(LRP2):c.2639+1G>A	rs746752313	0.00001
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln)	rs753667280	0.00001
NM_032120.4(RBM48):c.835A>G (p.Thr279Ala)	rs372607453	0.00001
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)	rs1207105923	0.00001
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His)	rs2105348670
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)	rs80338754
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)	rs80338747
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe)	rs2105467271
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter)	rs2105344578
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val)	rs746459698
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)	rs2134706153
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032
NM_182920.2(ADAMTS9):c.4575_4576del (p.Gln1525fs)	rs2106648140
NM_207361.6(FREM2):c.2533C>T (p.His845Tyr)	rs1869732816

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