List of variants reported as likely pathogenic for not provided by Richard Lifton Laboratory, Yale University School of Medicine

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met)	rs483352716	0.00001
NM_032866.5(CGNL1):c.2322T>C (p.His774=)	rs483352760	0.00001
NM_000321.3(RB1):c.1960G>A (p.Val654Met)	rs483352690
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)	rs483352689
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)	rs483352697
NM_000546.6(TP53):c.736A>G (p.Met246Val)	rs483352695
NM_000546.6(TP53):c.887A>G (p.His296Arg)	rs483352696
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)	rs386834264
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)	rs386352319
NM_000890.5(KCNJ5):c.451G>C (p.Gly151Arg)	rs386352319
NM_000890.5(KCNJ5):c.503T>G (p.Leu168Arg)	rs386352318
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu)	rs483352688
NM_001128840.3(CACNA1D):c.1207G>C (p.Gly403Arg)	rs386834263
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)	rs41276445
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)	rs121913403
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	rs121913412
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)	rs121913407
NM_001904.4(CTNNB1):c.723G>A (p.Val241=)	rs483352717
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)	rs121913396
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala)	rs483352721
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)	rs386352352
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr)	rs483352703
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=)	rs483352759

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