ClinVar Miner

List of variants in gene CPAP, RNF17 studied for Seckel syndrome 4

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_018451.5(CPAP):c.3478-49C>T rs1530876 0.78901
NM_018451.5(CPAP):c.*404C>T rs77868928 0.13457
NM_018451.5(CPAP):c.*639T>C rs61947515 0.12574
NM_018451.5(CPAP):c.*398A>G rs11620289 0.11436
NM_018451.5(CPAP):c.*623A>G rs115136790 0.01070
NM_018451.5(CPAP):c.3367-12T>C rs3742163 0.00421
NM_018451.5(CPAP):c.*570T>C rs139596189 0.00313
NM_018451.5(CPAP):c.*303C>A rs886050094 0.00157
NM_018451.5(CPAP):c.*556A>C rs188324716 0.00124
NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile) rs144251950 0.00073
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_018451.5(CPAP):c.*779A>T rs183612636 0.00055
NM_018451.5(CPAP):c.*541T>C rs533142063 0.00034
NM_018451.5(CPAP):c.3960C>T (p.Ser1320=) rs113239817 0.00032
NM_018451.5(CPAP):c.3305A>G (p.Asn1102Ser) rs41300592 0.00025
NM_018451.5(CPAP):c.*520A>G rs547113186 0.00017
NM_018451.5(CPAP):c.3825-11A>T rs527946206 0.00012
NM_018451.5(CPAP):c.*569A>G rs544072060 0.00011
NM_018451.5(CPAP):c.*890T>C rs17480581 0.00011
NM_018451.5(CPAP):c.3934G>A (p.Gly1312Ser) rs201508087 0.00010
NM_018451.5(CPAP):c.*721G>A rs755143149 0.00007
NM_018451.5(CPAP):c.*206A>G rs1011088030 0.00004
NM_018451.5(CPAP):c.3619-12G>T rs527997591 0.00003
NM_018451.5(CPAP):c.4016G>A (p.Ter1339=) rs768167259 0.00003
NM_018451.5(CPAP):c.*26C>T rs372867684 0.00002
NM_018451.5(CPAP):c.3618+7T>C rs769845659 0.00002
NM_018451.5(CPAP):c.3965G>A (p.Arg1322Gln) rs775936765 0.00002
NM_018451.5(CPAP):c.*124G>A rs886050097 0.00001
NM_018451.5(CPAP):c.*292A>T rs886050095 0.00001
NM_018451.5(CPAP):c.*316G>A rs1953900248 0.00001
NM_018451.5(CPAP):c.*464A>G rs886050093 0.00001
NM_018451.5(CPAP):c.3350A>G (p.Asn1117Ser) rs768507623 0.00001
NM_018451.5(CPAP):c.*267G>A rs886050096
NM_018451.5(CPAP):c.*593A>C rs1566274398
NM_018451.5(CPAP):c.*783C>T rs886050092
NM_018451.5(CPAP):c.3302-1G>C rs864321658
NM_018451.5(CPAP):c.3309dup (p.Pro1104fs) rs1131691823
NM_018451.5(CPAP):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018451.5(CPAP):c.3566C>A (p.Thr1189Asn) rs778219526
NM_018451.5(CPAP):c.3653C>T (p.Thr1218Met) rs149855336
NM_018451.5(CPAP):c.3654G>A (p.Thr1218=) rs765299653
NM_018451.5(CPAP):c.3704-14_3704-12del rs34991318
NM_018451.5(CPAP):c.3769C>A (p.Pro1257Thr) rs201774037
NM_018451.5(CPAP):c.3769C>G (p.Pro1257Ala) rs201774037
NM_018451.5(CPAP):c.3943G>C (p.Glu1315Gln) rs761333511

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