ClinVar Miner

List of variants reported as likely pathogenic by Richard Lifton Laboratory, Yale University School of Medicine

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Total variants: 30
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HGVS dbSNP
NM_000299.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_000321.2(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.2(RB1):c.1994T>G (p.Leu665Arg) rs483352689
NM_000546.5(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.887A>G (p.His296Arg) rs483352696
NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000890.3(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.3(KCNJ5):c.451G>C (p.Gly151Arg) rs386352319
NM_000890.3(KCNJ5):c.503T>G (p.Leu168Arg) rs386352318
NM_001076683.1(UBTF):c.2053G>T (p.Asp685Tyr) rs483352703
NM_001128840.2(CACNA1D):c.1207G>C (p.Gly403Arg) rs386834263
NM_001128840.2(CACNA1D):c.2250C>G (p.Ile750Met) rs41276445
NM_001830.3(CLCN4):c.2183C>T (p.Thr728Met) rs483352716
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.723G>A (p.Val241=) rs483352717
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_002499.3(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_003647.2(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.2(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.2(DGKE):c.472_473insT (p.Trp158Leufs) rs312262698
NM_003647.2(DGKE):c.486dupA (p.Val163Serfs) rs312262699
NM_003647.2(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.2(DGKE):c.889-1G>A rs312262696
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661
NM_032632.4(PAPOLA):c.1464A>G (p.Val488=) rs483352759
NM_032866.4(CGNL1):c.2322T>C (p.His774=) rs483352760

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