ClinVar Miner

List of variants in gene combination CP, HPS3 reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.2471C>T (p.Ser824Leu) rs373037058 0.00011
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00011
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032383.5(HPS3):c.2530G>A (p.Val844Ile) rs758569835 0.00006
NM_032383.5(HPS3):c.2411C>T (p.Ser804Leu) rs552963632 0.00005
NM_032383.5(HPS3):c.2509A>G (p.Ile837Val) rs186872520 0.00005
NM_032383.5(HPS3):c.2899A>G (p.Ile967Val) rs200136665 0.00005
NM_032383.5(HPS3):c.2546C>T (p.Ser849Phe) rs371304067 0.00004
NM_032383.5(HPS3):c.2481+5G>A rs187890574 0.00003
NM_032383.5(HPS3):c.2419A>C (p.Ile807Leu) rs751525171 0.00002
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr) rs776346762 0.00002
NM_032383.5(HPS3):c.2722A>C (p.Ile908Leu) rs1338969633 0.00002
NM_032383.5(HPS3):c.2794C>T (p.Arg932Trp) rs374197403 0.00002
NM_032383.5(HPS3):c.2851G>A (p.Gly951Arg) rs371658926 0.00002
NM_032383.5(HPS3):c.2333T>C (p.Leu778Ser) rs2473123819 0.00001
NM_032383.5(HPS3):c.2408C>T (p.Thr803Ile) rs1217032727 0.00001
NM_032383.5(HPS3):c.2447C>T (p.Pro816Leu) rs1376371250 0.00001
NM_032383.5(HPS3):c.2591C>T (p.Ser864Phe) rs1178638282 0.00001
NM_032383.5(HPS3):c.2671C>T (p.Leu891Phe) rs1446775566 0.00001
NM_032383.5(HPS3):c.2846G>A (p.Cys949Tyr) rs778588670 0.00001
NM_032383.5(HPS3):c.2887+6A>G rs1441622426 0.00001
NM_032383.5(HPS3):c.2974C>A (p.Pro992Thr) rs1725060294 0.00001
NC_000003.11:g.(?_148847511)_(148906009_?)dup
NM_032383.5(HPS3):c.2342T>C (p.Phe781Ser) rs2108170322
NM_032383.5(HPS3):c.2383C>T (p.Leu795Phe)
NM_032383.5(HPS3):c.2387A>G (p.Gln796Arg) rs1724008890
NM_032383.5(HPS3):c.2419A>G (p.Ile807Val) rs751525171
NM_032383.5(HPS3):c.2443C>T (p.Pro815Ser) rs1429446149
NM_032383.5(HPS3):c.2498A>T (p.His833Leu) rs2473128445
NM_032383.5(HPS3):c.2526C>G (p.His842Gln) rs3732557
NM_032383.5(HPS3):c.2564A>T (p.Tyr855Phe)
NM_032383.5(HPS3):c.2575C>G (p.Leu859Val)
NM_032383.5(HPS3):c.2624C>T (p.Ser875Phe) rs2108184048
NM_032383.5(HPS3):c.2636T>A (p.Phe879Tyr) rs2108184096
NM_032383.5(HPS3):c.2637C>A (p.Phe879Leu) rs774685745
NM_032383.5(HPS3):c.2722A>G (p.Ile908Val) rs1338969633
NM_032383.5(HPS3):c.2744_2745delinsAT (p.Cys915Tyr) rs2472689016
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg) rs186659271
NM_032383.5(HPS3):c.2755G>T (p.Val919Phe) rs1576706741
NM_032383.5(HPS3):c.2795G>C (p.Arg932Pro) rs777890661
NM_032383.5(HPS3):c.2827C>G (p.Leu943Val) rs753830955
NM_032383.5(HPS3):c.2834dup (p.Arg946fs) rs2108187120
NM_032383.5(HPS3):c.2837G>A (p.Arg946Lys) rs369619705
NM_032383.5(HPS3):c.2841A>G (p.Ile947Met) rs2108187154
NM_032383.5(HPS3):c.2847TGG[1] (p.Gly951del) rs750099827
NM_032383.5(HPS3):c.2884A>G (p.Lys962Glu) rs2108187323
NM_032383.5(HPS3):c.2886A>C (p.Lys962Asn) rs2472693610
NM_032383.5(HPS3):c.2935A>C (p.Asn979His) rs755248178
NM_032383.5(HPS3):c.2938G>A (p.Val980Ile) rs2472706921
NM_032383.5(HPS3):c.2996G>T (p.Arg999Leu) rs527240120

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