ClinVar Miner

List of variants reported as likely pathogenic for Rhabdoid tumor predisposition syndrome 2 by Invitae

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NC_000019.9:g.(?_11168921)_(11169575_?)dup
NM_003072.5(SMARCA4):c.1101_1119-550del rs2086204386
NM_003072.5(SMARCA4):c.1119-2A>C rs1568430280
NM_003072.5(SMARCA4):c.1245+1G>A
NM_003072.5(SMARCA4):c.1813-1G>C
NM_003072.5(SMARCA4):c.1943+1G>A rs2087817491
NM_003072.5(SMARCA4):c.2002-1G>A rs2146189762
NM_003072.5(SMARCA4):c.2002-2A>G rs1568462513
NM_003072.5(SMARCA4):c.2124-2A>G rs2088710706
NM_003072.5(SMARCA4):c.2194T>C (p.Tyr732His)
NM_003072.5(SMARCA4):c.2195A>G (p.Tyr732Cys)
NM_003072.5(SMARCA4):c.2263A>G (p.Lys755Glu) rs2146238910
NM_003072.5(SMARCA4):c.2274+1G>C rs867740591
NM_003072.5(SMARCA4):c.2274+1G>T
NM_003072.5(SMARCA4):c.2350G>T (p.Gly784Trp) rs2146279050
NM_003072.5(SMARCA4):c.2438+1G>A rs1555774786
NM_003072.5(SMARCA4):c.2503_2505+6del
NM_003072.5(SMARCA4):c.2617-1G>A rs1600277713
NM_003072.5(SMARCA4):c.2681C>G (p.Thr894Arg)
NM_003072.5(SMARCA4):c.2837C>G (p.Pro946Arg) rs1555778830
NM_003072.5(SMARCA4):c.2852G>C (p.Gly951Ala)
NM_003072.5(SMARCA4):c.2860-1G>A rs1060502102
NM_003072.5(SMARCA4):c.2860-2A>G rs2146451944
NM_003072.5(SMARCA4):c.2974-2A>G rs2146471651
NM_003072.5(SMARCA4):c.3081+1G>T rs1600301361
NM_003072.5(SMARCA4):c.3095C>A (p.Thr1032Asn)
NM_003072.5(SMARCA4):c.3422_3427delinsTCTTCT (p.Thr1141_Asn1143delinsIlePheTyr) rs2074872521
NM_003072.5(SMARCA4):c.3469C>T (p.Arg1157Trp)
NM_003072.5(SMARCA4):c.3546+1G>A rs2146603666
NM_003072.5(SMARCA4):c.3546+2T>C
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.356-2A>G
NM_003072.5(SMARCA4):c.3774+2T>A rs1475054297
NM_003072.5(SMARCA4):c.3774+2T>C rs1475054297
NM_003072.5(SMARCA4):c.3951+2T>C rs1555785056
NM_003072.5(SMARCA4):c.3952-1G>A rs1600405252
NM_003072.5(SMARCA4):c.3952-2A>G rs1308562238
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter) rs758517117
NM_003072.5(SMARCA4):c.4636-1G>A rs1290351732
NM_003072.5(SMARCA4):c.4769-2A>G
NM_003072.5(SMARCA4):c.761-2A>T rs1479379455
NM_003072.5(SMARCA4):c.859+1G>T rs2145798387
NM_003072.5(SMARCA4):c.87_222+48del rs2145722767

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