ClinVar Miner

List of variants reported for SUDDEN INFANT DEATH SYNDROME by Robert's Program, Boston Children's Hospital

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_000335.5(SCN5A):c.3837+12C>T rs368550655 0.00013
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp) rs760978512 0.00004
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) rs121913125 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His) rs201647627 0.00003
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000334.4(SCN4A):c.2045C>G (p.Ser682Trp) rs751368967 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_001267550.2(TTN):c.43622C>T (p.Ser14541Leu) rs768180052 0.00001
NM_007202.4(AKAP10):c.850A>G (p.Lys284Glu) rs985236104 0.00001
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) rs28936685 0.00001
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr) rs397514751
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met) rs199473631
NM_001083962.2(TCF4):c.562T>A (p.Ser188Thr) rs2146265783
NM_001099922.3(ALG13):c.2525A>G (p.Gln842Arg) rs964205254
NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val) rs1697296215
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met) rs375896308
NM_001242896.3(DEPDC5):c.2105-1G>A rs781125997
NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter) rs2148968418
NM_001267550.2(TTN):c.91721A>T (p.Glu30574Val) rs1308285808
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001330260.2(SCN8A):c.3284G>A (p.Arg1095Gln) rs2138868984
NM_001347721.2(DYRK1A):c.1501A>G (p.Ser501Gly) rs2148650316
NM_001458.5(FLNC):c.3964+5G>A rs2128936793
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784

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