ClinVar Miner

List of variants in gene combination CPAP, RNF17 reported by GeneDx

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_018451.5(CPAP):c.*108A>G rs9318911 0.98248
NM_018451.5(CPAP):c.3825-88C>A rs7317575 0.98248
NM_018451.5(CPAP):c.3478-49C>T rs1530876 0.78901
NM_018451.5(CPAP):c.3703+28_3703+31dup rs3831371 0.34102
NM_018451.5(CPAP):c.*683dup rs397718122 0.33944
NM_018451.5(CPAP):c.3825-135_3825-134dup rs151060650 0.20189
NM_018451.5(CPAP):c.3477+144G>A rs12864973 0.14352
NC_000013.11:g.24882246A>C rs78513218 0.13832
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.3366+87C>T rs3742164 0.05863
NM_018451.5(CPAP):c.3477+334T>G rs116796083 0.02108
NM_018451.5(CPAP):c.3824+80C>T rs17081326 0.02011
NM_018451.5(CPAP):c.3478-270T>A rs79546739 0.01220
NM_018451.5(CPAP):c.3477+135G>A rs114930466 0.01080
NM_018451.5(CPAP):c.*623A>G rs115136790 0.01070
NC_000013.11:g.24882135T>C rs1045550615 0.01004
NM_018451.5(CPAP):c.*594_*595dup rs570468323 0.00658
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.3824+21C>G rs2275941 0.00217
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.3367-25T>C rs541331117 0.00070
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.3621C>G (p.Ile1207Met) rs145882096 0.00025
NM_018451.5(CPAP):c.3478-19T>C rs375417441 0.00021
NM_018451.5(CPAP):c.3803G>A (p.Gly1268Asp) rs151090294 0.00011
NM_018451.5(CPAP):c.3602T>A (p.Met1201Lys) rs750428180 0.00007
NM_018451.5(CPAP):c.3424G>A (p.Glu1142Lys) rs182528406 0.00006
NM_018451.5(CPAP):c.3505C>T (p.Arg1169Cys) rs571084331 0.00003
NM_018451.5(CPAP):c.3477+9A>G rs751091603 0.00001
NC_000013.11:g.24882213_24882214del rs199811770
NC_000013.11:g.24882215TA[3] rs570781288
NM_018451.5(CPAP):c.3302-140_3302-139dup rs112080141
NM_018451.5(CPAP):c.3309dup (p.Pro1104fs) rs1131691823
NM_018451.5(CPAP):c.3366+28_3366+29dup rs34888101
NM_018451.5(CPAP):c.3367-42_3367-39del rs147851642
NM_018451.5(CPAP):c.3478-252A>C rs7995027
NM_018451.5(CPAP):c.3641A>G (p.Gln1214Arg) rs750268775
NM_018451.5(CPAP):c.3653C>T (p.Thr1218Met) rs149855336
NM_018451.5(CPAP):c.3682C>G (p.His1228Asp) rs372725414
NM_018451.5(CPAP):c.3703+19del rs751443030
NM_018451.5(CPAP):c.3704-14_3704-12del rs34991318
NM_018451.5(CPAP):c.3767T>C (p.Phe1256Ser)
NM_018451.5(CPAP):c.3825-31del rs141987132
NM_018451.5(CPAP):c.3851_3854dup (p.Asn1285delinsLysTer) rs2541592064
NM_018451.5(CPAP):c.3940C>A (p.Gln1314Lys)

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